Faculty Information - Shimojima Keiko

Published papers

Academic conference presentation

Research areas

Academic society memberships

Education

（Last updated : 2023-10-12 14:50:11）

Shimojima Keiko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine

Position Assistant Professor

■ Published papers

1.	Original article	Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers 2023/10
2.	Case report	Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features 2023/08/07
3.	Case report	Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C 2023/06
4.	Original article	Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns 2023/06
5.	Original article	Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis 2023/03/02
6.	Original article	Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features 2023/02
7.	Original article	Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements 2023/01
8.	Case report	Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, epilepsy, and early craniosynostosis 2022/12/05
9.	Original article	Genotype-phenotype correlation in six patients with interstitial deletions spanning 13q31 2022/09
10.	Original article	Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review 2022/09
11.	Original article	Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis 2022/01/12
12.	Case report	Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures 2021/11/29
13.	Original article	HECW2-related disorder in four Japanese patients 2021/10
14.	Case report	Deep intronic deletion in intron 3 of PLP1 associated with severe phenotype of Pelizaeus-Merzbacher disease 2021/04/01
15.	Case report	A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting 2021/03/06
16.	Original article	iPSCs established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation 2021/03
17.	Original article	Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern 2020/12
18.	Original article	Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome 2020/12
19.	Original article	Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations 2020/11
20.	Original article	Analyses of breakpoint-junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing 2020/09
21.	Original article	Molecular Profiles of Breast Cancer in a Single Institution 2020/08
22.	Case report	Novel LAMA2 variants identified in a patient with white matter abnormality 2020/05
23.	Original article	Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction 2020/01
24.	Case report	Two different MLC1 variants compounded with a common variant S93L in Japanese patients of megalencephalic leukoencephalopathy with subcortical cysts 2020
25.	Case report	A de novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome 2019/11
26.	Case report	Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation 2019/11
27.	Original article	Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders 2019/10
28.	Case report	Compound heterozygous ALDH7A1 mutation causes the hemi-allelic expression in a patient with pyridoxine-dependent epilepsy 2019/09
29.	Original article	Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities 2019/09
30.	Original article	Advantages of ddPCR in detection of PLP1 duplications 2019/08
31.	Original article	Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single nucleotide deletion in PLP1 2019/07
32.	Case report	Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan 2019/05
33.	Original article	Three Japanese patients with 3p13 microdeletions involving FOXP1 2019/03
34.	Case report	A novel PAFAH1B1 splicing variant identified in a patient with classical lissencephaly 2019
35.	Original article	Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder 2018/12
36.	Case report	Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome 2018/12
37.	Case report	An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU 2018/09
38.	Case report	Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism 2018/07
39.	Case report	Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome 2018/07
40.	Case report	Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA 2018/03
41.	Original article	Somatic mosaic deletions involving SCN1A cause Dravet syndrome. 2018/03
42.	Case report	A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects. 2018/01
43.	Original article	Familial 9q33q34 microduplication in siblings with developmental disorders and acrocephaly. 2017/12
44.	Original article	Characteristics of rare and private deletions identified in phenotypically normal individuals. 2017/09
45.	Case report	A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly 2017/08
46.	Case report	A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence 2017/08
47.	Case report	A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder 2017/07
48.	Case report	Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: literature review and description of an additional patient. 2017/07
49.	Case report	A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria 2017/05
50.	Case report	An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment. 2017/04
51.	Case report	Neurological manifestations of 2q31 microdeletion syndrome. 2017/02
52.	Case report	A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation 2017
53.	Original article	Mutations in NSD1 and NFIX in three patients with clinical features of Sotos syndrome and Malan syndrome 2017
54.	Case report	A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features. 2016/06
55.	Original article	A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. 2016/06
56.	Case report	A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia. 2016/04
57.	Original article	Detailed analysis of 26 cases of 1q partial duplication/triplication 1 syndrome. 2016/04
58.	Case report	Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: identification of a novel de novo mutation of EFNB1. 2016/03
59.	Original article	Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. 2016
60.	Original article	Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease. 2015/11
61.	Original article	CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. 2015/10
62.	Case report	Novel compound heterozygous LIAS mutations cause glycine encephalopathy. 2015/10
63.	Original article	Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations 2015/09
64.	Review article	Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients. 2015/08
65.	Original article	Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34. 2015/08
66.	Review article	Epilepsy in 1p36 deletion syndrome is not associated with deletion size. 2015/01
67.	Original article	Xq28 duplications and epilepsy: Influence of the combinatory duplication of MECP2 and GDI1. 2015/01
68.	Case report	A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype. 2015
69.	Case report	A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. 2015
70.	Case report	A novel MED12 mutation associated with non-specific X-linked intellectual disability. 2015
71.	Original article	An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation. 2015
72.	Original article	Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations. 2015
73.	Case report	Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. 2015
74.	Original article	Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4. 2015
75.	Original article	Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy. 2015
76.	Original article	Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy. 2015
77.	Original article	Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. 2015
78.	Case report	White matter abnormalities in an adult patient with L-2-hydroxyglutaric aciduria. 2015
79.	Original article	Growth patterns of patients with 1p36 deletion syndrome. 2014/05
80.	Original article	An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia, and behavioral abnormalities 2014/01
81.	Original article	3p interstitial deletion including PRICKLE2 in identical twins with autistic features. 2014
82.	Original article	A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures. 2014
83.	Original article	Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation. 2014
84.	Original article	Clinical impacts of genomic copy number gains at Xq28. 2014
85.	Original article	MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts. 2014
86.	Original article	Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4. 2014
87.	Original article	Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia. 2014
88.	Original article	Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. 2014
89.	Original article	Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA. 2014
90.	Original article	SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome. 2014
91.	Original article	Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report. 2014
92.	Original article	A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease. 2013/07
93.	Original article	MECP2 duplication syndrome in both genders. 2013/05
94.	Original article	A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. 2013/04
95.	Case report	De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features. 2013/03
96.	Original article	101 kb deletion of chromosome 4p16.3 limited to WHSCR2 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. 2013
97.	Original article	A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. 2013
98.	Original article	A novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism. 2013
99.	Original article	Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1. 2013
100.	Original article	Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients. 2013
101.	Original article	Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior. 2013
102.	Original article	Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. 2013
103.	Original article	Microdeletions of 5.5Mb (4q13.2-q13.3) and 4.1Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism. 2013
104.	Original article	PRRT2 mutation in Japanese children with benign infantile epilepsy. 2013
105.	Original article	Whole-exome sequence for a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria, and midbrain tectal hyperplasia. 2013
106.	Original article	An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease 2012/09
107.	Original article	De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum. 2012/09
108.	Original article	Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. 2012/09
109.	Original article	Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination. 2012/09
110.	Original article	Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. 2012/06
111.	Original article	8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome. 2012/05
112.	Original article	Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. 2012/03
113.	Case report	Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia. 2012/03
114.	Case report	Jacobsen Syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. 2012/01
115.	Original article	Growth profiles of 34 patients with Wolf-Hirschhorn Syndrome. 2012
116.	Original article	Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay. 2011/12
117.	Original article	Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis. 2011/11
118.	Original article	CDKL5 alterations lead to early epileptic encephalopathy in both genders. 2011/10
119.	Case report	Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome. 2011/09
120.	Original article	Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. 2011/08
121.	Original article	SCN1B is Not Related to Benign Partial Epilepsy in Infancy or Convulsions with Gastroenteritis. 2011/08
122.	Original article	Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3. 2011/07
123.	Original article	Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV. 2011/07
124.	Case report	9q22 Deletion--first familial case. 2011/06
125.	Original article	A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. 2011/04
126.	Original article	Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. 2011
127.	Original article	STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study. 2010/12
128.	Case report	Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale. 2010/12
129.	Case report	A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy. 2010/11
130.	Original article	Altered gene expression in umbilical cord mononuclear cells in preterm infants with periventricular leukomalacia. 2010/10
131.	Case report	Co-occurrence of Prader-Willi and Sotos syndromes. 2010/08
132.	Original article	Genomic copy number variations at 17p13.3 and epileptogenesis. 2010/05
133.	Original article	Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome. 2010/05
134.	Case report	Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3. including ITGB6. 2010/04
135.	Original article	zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly. 2010/04
136.	Original article	A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish. 2010/03
137.	Original article	Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. 2010/03
138.	Original article	Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications 2010
139.	Original article	TULIP1 (RALGAPA1) haploinsufficiency with brain development delay 2009/12
140.	Original article	A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay 2009
141.	Original article	A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including Rubinstein-Taybi region but no relation with psychiatric traits 2009
142.	Original article	A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae 2009
143.	Original article	A newly recognized microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behavior, short stature, microcephaly, and dysmorphic features: a new patient with 3.2-Mb deletion 2009
144.	Original article	Clinical features of microdeletion 9q22.3 (pat) 2009
145.	Original article	Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications 2009
146.	Original article	Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH 2009
147.	Original article	Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2) 2009
148.	Original article	Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome 2009
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■ Academic conference presentation

1.	A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2023/10/14
2.	Homozygous KCTD3 nonsense variant due to UPD associated with syndromic developmental epileptic encephalopathy 2023/10/14
3.	Type 2 congenital generalized lipodystrophy by NOTCH2 variant 2023/10/14
4.	A novel GNAO1 variant identified in a patient with clinically diagnosed as cerebral palsy 2023/10/13
5.	Potocki-Lupski Syndrome Family Association Support 2023/05/26
6.	Two cases of microdeletion of 3p14 containing MAGl1 2023/05/26
7.	Consideration on the severity of central nervous system and muscular disorders caused by HECW2 mutation 2022/12/17
8.	14q13 microdeletion containing NKX2-1 is associated with intellectual disability: Report of three cases 2022/12/15
9.	Construction of CNV check site 2022/12/15
10.	Two cases showing a microdeletion of 5q14.3 where MEF2C is Iocated 2022/06/04
11.	Two patients with 10q22.3 microdeletions containing Young-Simpson syndrome gene KAT6B 2022/06/04
12.	A neurodevelopmental female with a 22q13.2 microdeletion containing TCF20 2022/06/03
13.	Efficient Screening Tests and Gene Mutation Spectrum for Hereditary Stomatocytosis in Japan. 2021/12
14.	Analysis of chromosome structural variations using long-read sequencing 2020/08/19
15.	Mechanism of chromosomal structural abnormalities with increased copy number at both ends 2020/08/19
16.	Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders 2019/07/26
17.	A new case of 19q13.32 deletion with psychomotor delay, characteristic face, cardiac malformation 2019/05/31
18.	A patient with epileptic encephalopathy associated with highly abnormal EEG and MED13L mutation 2018/05/31
19.	MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts 2016/06/04
20.	Mutation in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease 2016/04/05
21.	CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. 2016/04/03
22.	Mutation in the gene encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease. 2016/04/03
23.	Novel mutation in the COL1A1 gene causes severe scoliosis and valvular heart disease in a Japanese family with osteogenesis imperfecta. 2016/04/03
24.	Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. 2016/04/03
25.	Single nucleotide variation in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. 2016/04/03
26.	Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. 2016/04/03
27.	Two cases of monosomy of 3q with cerebral MRI findings. 2016/04/03
28.	Characteristics of the patients with benign partial epilepsy in infancy due to PRRT2 mutations 2014/11
29.	Whole-exome sequence for a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria, and midbrain tectal hyperplasia. 2013/05
30.	Comprehensive analysis of CDKL5 in patients with epileptic encephalopathy 2011/08/13
31.	Xq11.1 nullisomy including ARHGEF9 2011/08/12
32.	Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications 2009/10
33.	Microdeletion and triplication around 17p13 including PAFAH1B/LIS1 in three patients with MR and epilepsy 2009/10
34.	Autism related 593-kb microdeletion of 16p11.2 in a mother and son without autism but MR 2009/05
35.	CDKL5 mutations in patients with early-onset intractable epilepsy and autistic behavior 2009/05
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■ Research areas

Embryonic medicine and pediatrics, Medical biochemistry

■ Academic society memberships

1.	2008/05～	American Society of Human Genetics
2.	2007/04～	The Japan Society of Human Neurology
3.	2006/12～	The Japan Socitey of Human Genetics
4.	2002/05～	Japan Pediatric Society

■ Education

1.	2012/05 Degree Acquisition	Yokohama City University,
2.	1996/04～2002/03	Faculty of Medicine, Shinshu University, Graduated,