scholarly journals A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4

2017 ◽  
Vol 58 (2) ◽  
pp. 1008 ◽  
Author(s):  
Ryoko Oki ◽  
Kisaburo Yamada ◽  
Satoko Nakano ◽  
Kenichi Kimoto ◽  
Ken Yamamoto ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Oculocutaneous Albinism ◽  
Japanese Family

scholarly journals A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Takuya Morikawa ◽  
Shiroh Miura ◽  
Takahisa Tateishi ◽  
Kazuhito Noda ◽  
Hiroki Shibata
Keyword(s):  
Molecular Diagnosis ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Family Members ◽  
Pathogenic Variant ◽  
Lower Limbs ◽  
Spastic Paraplegia ◽  
Nonsynonymous Variant ◽  
Japanese Family ◽  
Functional Variants

AbstractSpastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare nonsynonymous variant, NM_014946.4:c.1252G>A [p.Glu418Lys], in all three family members. This variant has previously been reported in a Russian SPG family as a “likely pathogenic” variant.5 Ascertainment of additional patients carrying this variant in an unrelated Japanese SPG family further supports its pathogenicity. Molecular diagnosis of SPG4 in this family with hereditary spastic paraplegia is confirmed.

scholarly journals A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome

2020 ◽  
Vol 50 (7) ◽  
pp. 826-829
Author(s):  
Yosuke Miyahara ◽  
Hideyuki Ishida ◽  
Koichi Kawabe ◽  
Hiroyuki Eto ◽  
Toyotaka Kasai ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Dominant ◽  
Hyperplastic Polyps ◽  
Autosomal Dominant Disorder ◽  
Polyposis Syndrome ◽  
Japanese Family ◽  
Germline Variant ◽  
Juvenile Polyps ◽  
Increased Risk ◽  
Cancer Syndromes

Abstract Hereditary mixed polyposis syndrome (HMPS) is a rare autosomal dominant disorder characterized by a mixture of typical and/or atypical juvenile polyps, adenomas and hyperplastic polyps, resulting in an increased risk of colorectal cancer. In HMPS, four different germline BMPR1A variants from five unrelated families have been reported. This study is the first to report HMPS within a Japanese family. The proband underwent repeated colonoscopic polypectomies over a 5-year period, since the age of 67. Histological examination of these resected polyps revealed adenomas, juvenile-like polyps and hyperplastic changes. Genetic testing was conducted to identify the causative genes for hereditary gastrointestinal cancer syndromes, including BMPR1A. We detected a germline variant, c.72_73delGA, in BMPR1A. The proband’s elder brother, younger sister and nephew have also undergone repeated colonoscopic polypectomies at other clinics. His sister and nephew underwent genetic testing, and the same BMPR1A variant was identified.

scholarly journals Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family

2015 ◽  
Vol 4 (2) ◽  
pp. 218-222 ◽  
Author(s):  
Naoko Ito ◽  
Kenji Ihara ◽  
Tomohiro Kamoda ◽  
Satoshi Akamine ◽  
Kentaro Kamezaki ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Autosomal Dominant ◽  
Distal Renal Tubular Acidosis ◽  
Japanese Family ◽  
Anion Exchanger 1 ◽  
Renal Tubular

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss

2005 ◽  
Vol 125 (11) ◽  
pp. 1189-1194 ◽  
Author(s):  
Yoshihiro Noguchi ◽  
Takatoshi Yashima ◽  
Akio Hatanaka ◽  
Masamichi Uzawa ◽  
Michio Yasunami ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Low Frequency ◽  
Wolfram Syndrome ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Japanese Family

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Japanese Family

Epilepsia ◽  
2000 ◽  
Vol 41 (s9) ◽  
pp. 57-57
Author(s):  
Kenichiro Kobayashi ◽  
Maatoshi Ito ◽  
Tatsuya Fujii ◽  
Tomoko Miyajima ◽  
Takehiko Okuno
Keyword(s):  
Frontal Lobe ◽  
Autosomal Dominant ◽  
Frontal Lobe Epilepsy ◽  
Japanese Family ◽  
Nocturnal Frontal Lobe Epilepsy

Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family

2000 ◽  
Vol 129 (2) ◽  
pp. 159-165 ◽  
Author(s):  
Koki Yamada ◽  
Hiro-aki Tomita ◽  
Suketaka Kanazawa ◽  
Akiko Mera ◽  
Tsugio Amemiya ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Japanese Family ◽  
Posterior Polar Cataract

scholarly journals A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1

2016 ◽  
Vol 25 (4) ◽  
pp. 135-138 ◽  
Author(s):  
Yoshimi Nishizaki ◽  
Makoto Hiura ◽  
Hidetoshi Sato ◽  
Yohei Ogawa ◽  
Akihiko Saitoh ◽  
...  
Keyword(s):  
Mineralocorticoid Receptor ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Japanese Family ◽  
Pseudohypoaldosteronism Type
Sign in / Sign up

Export Citation Format

Share Document