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Article
Open AccessA Japanese patient with neonatal biotin-responsive basal ganglia disease
Biotin-responsive basal ganglia disease (BBGD) with SLC19A3 mutation was first reported in 1998, and over 30 mutations have been reported. We report a neonatal BBGD case with sudden-onset feeding difficulty and i...
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Article
Open AccessAuthor Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
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Article
Open AccessA high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome
Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder associated with mitochondrial deficiency. m.14597A>G (p.Ile26Thr) in the MT-ND6 gene was reported to cause Leberʼs hereditary optic neu...
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Article
Open AccessPrenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status...
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Article
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome
Pentatricopeptide repeat domain proteins are a large family of RNA-binding proteins involved in mitochondrial RNA editing, stability, and translation. Mitochondrial translation machinery defects are an expandi...
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Article
Characteristics of MUTYH variants in Japanese colorectal polyposis patients
The base excision repair gene MUTYH is the causative gene of colorectal polyposis syndrome, which is an autosomal recessive disorder associated with a high risk of colorectal cancer. Since few studies have invest...
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Article
Open AccessClinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early childhood. It is clinically diagnosed by typical manifestations and characteristic computed tomography (CT) or magnetic reso...
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Article
Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies
Genetic testing for hereditary colorectal polyposis/cancers has become increasingly important. Therefore, the development of a timesaving diagnostic platform is indispensable for clinical practice. We designed...
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Article
Open AccessA quantitatively-modeled homozygosity map** algorithm, qHomozygosityMap**, utilizing whole genome single nucleotide polymorphism genoty** data
Homozygosity map** is a powerful procedure that is capable of detecting recessive disease-causing genes in a few patients from families with a history of inbreeding. We report here a homozygosity map** alg...
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Article
Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population
The purpose of this investigation was to determine whether the high-temperature requirement A-1 (HTRA1) gene polymorphism is associated with age-related macular degeneration (AMD) in native, unrelated Japanese pa...
