Search results for: Keiko Shimojima

Items from 1 to 20 out of 64 results

article

Novel A178P mutation in SLC16A2 in a patient with Allan‐Herndon‐Dudley syndrome

Toshiyuki Yamamoto, Yongping Lu, Ryoko Nakamura, Keiko Shimojima, more

Congenital Anomalies > 58 > 4 > 143 - 144

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A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects

Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto

Congenital Anomalies > 58 > 1 > 36 - 38

Interstitial deletions in the 10q21.3q22.2 chromosomal region are rare. A de novo microdeletion in this region was identified in a patient with severe developmental delay and multiple congenital anomalies, including congenital heart defects. The identified 10.4‐Mb deletion included 84 RefSeq genes. CTNNA3 and JMJD1C have been associated with cardiomyopathy and neurological impairments (autism and/or...

article

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly

Keiko Shimojima, Nobuhiko Okamoto, Himanshu Goel, Yumiko Ondo, more

European Journal of Medical Genetics > 2017 > 60 > 12 > 650-654

Because several genes responsible for epileptic encephalopathy are located on the 9q33q34 region, patients with chromosomal deletions of this region often show intractable epilepsy and neurodevelopmental disability. Contrary to these findings, chromosomal duplications of this region have never been reported previously. We identified a first case of 9q33q34 microduplications in siblings associated...

article

Neurological manifestations of 2q31 microdeletion syndrome

Nobuhiko Okamoto, Sadami Kimura, Keiko Shimojima, Toshiyuki Yamamoto

Congenital Anomalies > 57 > 6 > 197 - 200

Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that control cell fate and the regional identities along the primary body and limb axes. We experienced a new patient with 2q31 microdeletion encompassing the HOXD gene cluster...

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Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient

Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto

Congenital Anomalies > 57 > 4 > 109 - 113

Cases of 2q23q24 microdeletion syndrome are rare. Patients with chromosomal deletions in this region often show language impairment and/or developmental delay of variable severity. Previous genotype–phenotype correlation study suggested GALNT13 and KCNJ3 as possible candidate genes for such phenotypes. We identified a new overlapping deletion in a patient with severe developmental delay. The identified...

article

Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan

Toshiyuki Yamamoto, Keiko Shimojima, Mayumi Matsufuji, Ryuichi Mashima, more

Brain and Development > 2017 > 39 > 5 > 422-425

Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, aspartylglucosaminidase (AGA). This disorder is rare in the general population except in Finland. Since the most characteristic feature of this disorder is a progressive developmental regression, patients often show no specific symptoms in the initial stages, and thus early...

article

A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features

Toshiyuki Yamamoto, Keiko Shimojima, Sawako Yamazaki, Kanju Ikeno, more

Congenital Anomalies > 56 > 6 > 253 - 255

Interstitial deletions of the 16q centromeric region are rarely reported. A microdeletion of the 16q12.2q21 region was identified in a patient with intellectual disability, epilepsy, short stature, and distinctive features; including up‐slanting palpebral fissures, hypertelorism, epicanthic folds, anteverted nares, simple philtrum, thin upper lip vermilion, high arched palate, posteriorly rotated...

article

Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis

Keiko Shimojima, Yumiko Ondo, Mayumi Matsufuji, Nozomi Sano, more

European Journal of Medical Genetics > 2016 > 59 > 11 > 559-563

A female patient presented with developmental delay, distinctive facial features, and congenital anomalies, including a heart defect and premature lambdoid synostosis. The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activated protein kinase kinase 2 gene (MAP2K2), in which mutations cause the cardio-facio-cutaneous (CFC)...

article

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly

Keiko Shimojima, Satoshi Narai, Masami Togawa, Tomotsune Doumoto, more

European Journal of Medical Genetics > 2016 > 59 > 10 > 502-506

There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited clinical similarities including non-specific developmental delay, short stature, microcephaly,...

article

Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutation

Ayuko Igarashi, Akihisa Okumura, Keiko Shimojima, Shinpei Abe, more

Brain and Development > 2016 > 38 > 6 > 597-600

We describe a girl with Down syndrome who experienced focal seizures and epileptic spasms during infancy. The patient was diagnosed as having trisomy 21 during the neonatal period. She had focal seizures at five months of age, which were controlled with phenobarbital. However, epileptic spasms appeared at seven months of age in association with hypsarrhythmia. Upon treatment with adrenocorticotropic...

article

Use of targeted next‐generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1

Toshiyuki Yamamoto, Naru Igarashi, Keiko Shimojima, Noriko Sangu, more

Congenital Anomalies > 56 > 2 > 91 - 93

Craniofrontonasal syndrome (CFNS; MIM#304110) is characterized by asymmetric facial features with hypertelorism and a broad bifid nose due to synostosis of the coronal suture. CFNS shows a unique X‐linked inheritance pattern (most affected patients are female and obligate male carriers exhibit a mild manifestation or no typical features at all) associated with the ephrin‐B1 gene (EFNB1) located in...

article

Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy

Toshiyuki Yamamoto, Keiko Shimojima, Tamami Yano, Yuki Ueda, more

Brain and Development > 2016 > 38 > 3 > 280-284

Epileptic encephalopathy, which commences during early infancy, is a severe epileptic syndrome that manifests as age-dependent seizures and severe developmental delay. The syntaxin-binding protein 1 gene (STXBP1) is one of the genes responsible for epileptic encephalopathy. We conducted a cohort study to analyze STXBP1 in 42 patients with epileptic encephalopathy. We identified four novel mutations:...

article

White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria

Toshiyuki Yamamoto, Seiichiro Yoshioka, Yoshinori Tsurusaki, Shimada Shino, more

Brain and Development > 2016 > 38 > 1 > 142-144

l-2-Hydroxyglutaric aciduria (l-2-HGA) is a rare inborn error of metabolism. Mainly, patients with this disorder exhibit neurological symptoms and characteristic neuroradiological findings, such as subcortical white matter abnormalities, which are believed to be caused by the toxicity of the accumulation of l-2-hydroxyglutaric acid. A genotype-first approach of the whole exome sequence was used to...

article

Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations

Noriko Sangu, Keiko Shimojima, Okumura Akihisa, Tomohiro Ando, more

Epilepsy Research > 2015 > 118 > C > 10-13

Mutations in the proline-rich transmembrane protein 2 gene (PRRT2) are known to cause clinical symptoms of paroxysmal kinesigenic dyskinesia (PKD), benign partial epilepsy in infancy (BPEI), and infantile convulsions with choreoathetosis (ICCA) syndrome; however, not all patients with BPEI have PRRT2 mutations, and the genetic backgrounds for such patients are still unknown. To characterize BPEI patients...

article

Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease

Shino Shimada, Keiko Shimojima, Noriko Sangu, Ai Hoshino, more

Brain and Development > 2015 > 37 > 10 > 960-966

Vanishing white matter disease (VWM) is a chronic, progressive leukoencephalopathy associated with episodes of rapid deterioration following minor stress events such as head traumas or infectious disorders. The white matter of the patients with VWM exhibits characteristic radiological findings.The genes encoding all five subunits of eukaryotic translation initiation factor 2B (EIF2B) were analyzed...

article

CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly

Keiko Shimojima, Akihisa Okumura, Masaharu Hayashi, Takayuki Kondo, more

Genomics > 2015 > 106 > 4 > 196-203

The human cerebral cortex is peculiar for a six-layered cellular-sheet structure with convolution, which is a consequence of neuronal migration. Dysfunctions of the pathways contributing to this mechanism typically lead to lissencephaly manifesting smooth brain surfaces. To investigate the unknown mechanism underlying neuronal migration disorders, we generated induced pluripotent stem (iPS) cells...

article

Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients

Toshiyuki Yamamoto, Shino Shimada, Keiko Shimojima, Noriko Sangu, more

European Journal of Medical Genetics > 2015 > 58 > 9 > 492-496

Leukoencephalopathies are heterogeneous entities with white matter abnormalities. Mutations of the gene encoding hepatic and glial cell adhesion molecule (HEPACAM) located on 11q24 are related to one of the leukoencephalopathies: megalencephalic leukoencephalopathy with subcortical cysts type 2 (MLC2). Genomic copy number aberrations were analyzed by microarray comparative hybridization for two patients...

article

A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype

Keiko Shimojima, Akihisa Okumura, Toshiyuki Yamamoto

Data in Brief > 2015 > 4 > C > 488-491

Lissencephaly is a type of the congenital malformation of the brain. Due to the impairments of neuronal migration, patients show absence of brain convolution manifesting smooth brain surfaces. One of the human genes responsible for lissencephaly is the platelet-activating factor acetylhydrolase 1b gene (PAFAH1B; also known as LIS1) located on 17p13.3. Patients with heterozygous deletion of this chromosomal...

article

Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34

Masakazu Mimaki, Takashi Shiihara, Mio Watanabe, Kyoko Hirakata, more

Brain and Development > 2015 > 37 > 7 > 714-718

We describe two unrelated patients with terminal deletions in the long arm of chromosome 13 showing brain malformation consisting of holoprosencephaly and cerebellar vermis hypoplasia. Array comparative genomic hybridization analysis revealed a pure terminal deletion of 13q31.3q34 in one patient and a mosaic ring chromosome with 13q32.2q34 deletion in the other. Mutations in ZIC2, located within region...

article

Characteristics of 2p15‐p16.1 microdeletion syndrome: Review and description of two additional patients

Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto

Congenital Anomalies > 55 > 3 > 125 - 132

Many new microdeletion syndromes have been characterized in the past decade, including 2p15‐p16.1 microdeletion syndrome. More than 10 patients with this syndrome have been described. Recently, we encountered two additional patients with 2p15‐p16.1 microdeletion syndrome. All patients showed variable degrees of intellectual disability, with the autistic features characteristic of this syndrome. Seven...

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Search results for: Keiko Shimojima

Novel A178P mutation in SLC16A2 in a patient with Allan‐Herndon‐Dudley syndrome

A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly

Neurological manifestations of 2q31 microdeletion syndrome

Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient

Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan

A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features

Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly

Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutation

Use of targeted next‐generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1

Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy

White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria

Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations

Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease

CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly

Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients

A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype

Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34

Characteristics of 2p15‐p16.1 microdeletion syndrome: Review and description of two additional patients

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