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Article
Open AccessInfantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
Recently, haploinsufficiency of PURA has been identified as an essential cause of 5q31.3 microdeletion syndrome, which is characterized by severe psychomotor developmental delay, epilepsy, distinctive features, a...
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Article
Open AccessA novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation
The mitochondrial aspartyl-tRNA synthetase 2 gene (DARS2) is responsible for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). A Japanese patient with LBSL showed compou...
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Article
Open AccessCharacteristics of rare and private deletions identified in phenotypically normal individuals
Genomic copy number variations (CNVs) identified through chromosomal microarray testing must be validated to confirm whether they are pathogenically and functionally relevant to their respective clinical featu...
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Article
Open AccessA novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence
The tubulin beta-4A gene (TUBB4A) is associated with two different clinical conditions, dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We identified a novel T...
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Article
Open AccessA 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder
We describe a 9-year-old male patient with a 15q14 microdeletion including MEIS2. The patient was born with a ventricular septal defect and submucosal cleft. Mild developmental disability and autism spectrum diso...
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Article
Open AccessA novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
Osteogenesis imperfecta (OI) is a heterogeneous disorder that is characterized by bone fragility and systemic complications, and is mainly caused by gene mutations in COL1A1 or COL1A2. A novel COL1A1 splicing mut...
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Article
Open AccessA 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism
A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4, GRM8, and 11 other genes were included. GR...
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Article
Open AccessA novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (PLP1) located on chromosome Xq22. A male patient showed severe developme...
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Article
Open AccessLoss-of-function mutations and global rearrangements in GPC3 in patients with Simpson–Golabi–Behmel syndrome
Simpson–Golabi–Behmel syndrome is a congenital malformation syndrome associated with mutations in GPC3, which is located in the Xq26 region. Three new loss-of-function mutations and a global X-chromosome rearrang...
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Article
Open AccessChallenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach
Next-generation sequencing (NGS) is widely used for the detection of disease-causing nucleotide variants. The challenges associated with detecting copy number variants (CNVs) using NGS analysis have been repor...
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Article
Open AccessA de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene
Microdeletions in the 10q26.1 region are related to intellectual disability, growth delay, microcephaly, distinctive craniofacial features, cardiac defects, genital abnormalities and inner ear abnormalities. T...
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Open AccessNovel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy
Novel PLA2G6 mutations associated with p.Asp283Asn and a unique intragenic deletion of exons 4 and 5 due to non-allelic homologous recombination were identified in a Japanese female patient with typical infantile...
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Article
Open AccessRecurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy
The cyclin-dependent kinase-like 5 gene (CDKL5) is recognized as one of the genes responsible for epileptic encephalopathy. We identified CDKL5 mutations in five Japanese patients (one male and four female) with ...
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Article
Open AccessA novel MED12 mutation associated with non-specific X-linked intellectual disability
The mediator complex subunit 12 gene (MED12) is responsible for an X-linked recessive intellectual disability syndrome that is characterized by dysmorphic features such as a long, narrow face and blepharophimosis...
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Article
Open AccessA novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures
Epilepsy of infancy with migrating focal seizures (EIFMS) is a rare, early-onset epileptic encephalopathy characterized by polymorphous focal seizures. De novo mutations of KCNT1 have been identified in cases of ...
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Article
Open AccessMLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive neurological disorder manifesting early onset macrocephaly and delayed-onset neurological deterioration. Characteristi...
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Article
Open AccessSLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome
Allan–Herndon–Dudley syndrome (AHDS) is a neurodevelopmental disorder that manifests as intellectual disability and motor developmental delay. Thyroid hormone transporter dysfunction due to SLC16A2 mutation is th...
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Article
Open AccessClinical impacts of genomic copy number gains at Xq28
Duplications of the Xq28 region are the most frequent chromosomal aberrations observed in patients with intellectual disability (ID), especially in males. These duplications occur by variable mechanisms, inclu...
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Article
Open AccessWhole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report
Owing to the number of genetic mutations that contribute to malformations of cortical development, identification of causative mutations in candidate genes is challenging. To overcome these challenges, we perf...
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Article
Open AccessDe novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features
Triplication is a rare chromosomal anomaly. We identified a de novo triplication of 11q12.3 in a patient with developmental delay, distinctive facial features, and others. In the present study, we discuss the ...
