scholarly journals Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease

1999 ◽  
Vol 44 (3) ◽  
pp. 206-209 ◽  
Author(s):  
A. Ogawa ◽  
Shigenori Yamamoto ◽  
Masaki Takayanagi ◽  
Toshiaki Kogo ◽  
Masaki Kanazawa ◽  
...  
Keyword(s):  
Menkes Disease ◽  
Japanese Patients ◽  
Novel Mutations ◽  
Mnk Gene

Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks

2009 ◽  
Vol 380 (3) ◽  
pp. 548-553 ◽  
Author(s):  
Naoyuki Sato ◽  
Tomohiro Nakayama ◽  
Yoshihiro Mizutani ◽  
Mitsuko Yuzawa
Keyword(s):  
Japanese Patients ◽  
Angioid Streaks ◽  
Novel Mutations ◽  
Abcc6 Gene

ATP 7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis

2019 ◽  
Vol 61 (4) ◽  
pp. 345-350 ◽  
Author(s):  
Chie Fujisawa ◽  
Hiroko Kodama ◽  
Tomoko Hiroki ◽  
Yoshikiyo Akasaka ◽  
Makoto Hamanoue
Keyword(s):  
Menkes Disease ◽  
Japanese Patients ◽  
Gene Analysis ◽  
Carrier Detection

Two novel mutations ofPTEN gene in Japanese patients with Cowden syndrome

2004 ◽  
Vol 128A (1) ◽  
pp. 12-14 ◽  
Author(s):  
Takeshi Sawada ◽  
Toshihide Okada ◽  
Kazuhiro Miwa ◽  
Hiro Satoh ◽  
Akimichi Asano ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Cowden Syndrome ◽  
Novel Mutations

scholarly journals Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency

2007 ◽  
Vol 52 (12) ◽  
pp. 1040-1043 ◽  
Author(s):  
Mitsugu Uematsu ◽  
Osamu Sakamoto ◽  
Noriko Sugawara ◽  
Naonori Kumagai ◽  
Tetsuji Morimoto ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Novel Mutations

Novel Mutations in LRTOMT Associated With Moderate Progressive Hearing Loss in Autosomal Recessive Inheritance

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 142S-147S ◽  
Author(s):  
Aya Ichinose ◽  
Hideaki Moteki ◽  
Mitsuru Hattori ◽  
Shin-ya Nishio ◽  
Shin-ichi Usami
Keyword(s):  
Hearing Loss ◽  
Massively Parallel Sequencing ◽  
Autosomal Recessive Inheritance ◽  
Japanese Patients ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Coding Region ◽  
Novel Mutations ◽  
First Case

Objective: We present a patient who was identified with novel mutations in the LRTOMT gene and describe the clinical features of the phenotype including serial audiological findings. Methods: One hundred six Japanese patients with mild to moderate sensorineural hearing loss from unrelated and nonconsanguineous families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic cause of hearing loss. Results: Compound heterozygotes with a novel frame-shift mutation and a missense mutation were identified in the LRTOMT gene. The mutated residues were segregated in both alleles of LRTOMT, present within the LRTOMT2 protein coding region. The patient had moderate sloping hearing loss at high frequencies, which progressed at 1000 Hz and higher frequencies over a period of 6 years. Conclusion: Hearing loss caused by mutations in the LRTOMT gene is extremely rare. This is the first case report of a compound heterozygous mutation in a nonconsanguineous family.

scholarly journals Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form

2003 ◽  
Vol 48 (11) ◽  
pp. 571-574 ◽  
Author(s):  
Akemi Tanaka ◽  
Lan Thi Ngcok Hoang ◽  
Yasuaki Nishi ◽  
Satoshi Maniwa ◽  
Makio Oka ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Gm2 Gangliosidosis ◽  
Novel Mutations ◽  
Acute Form

Molecular characteristics in Japanese patients with lipidosis: Novel mutations in metachromatic leukodystrophy and Gaucher disease

1993 ◽  
Vol 119 (1-2) ◽  
pp. 179-184 ◽  
Author(s):  
Yoshikatsu Eto ◽  
Hiroshi Kawame ◽  
Yoriyasu Hasegawa ◽  
Toya Ohashi ◽  
Hiroyuki Ida ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Metachromatic Leukodystrophy ◽  
Japanese Patients ◽  
Molecular Characteristics ◽  
Novel Mutations

scholarly journals Eight novel mutations of theFBN1 gene found in Japanese patients with Marfan syndrome

2000 ◽  
Vol 17 (1) ◽  
pp. 71-72 ◽  
Author(s):  
Ritsu Matsukawa ◽  
Kazuki Iida ◽  
Masako Nakayama ◽  
Tsunehiro Mukai ◽  
Yutaka Okita ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Japanese Patients ◽  
Novel Mutations
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