A japanese family carrying a novel mutation in the emery-dreifuss muscular dystrophy gene

1997 ◽  
Vol 41 (3) ◽  
pp. 399-402 ◽  
Author(s):  
Yaeko Ichikawa ◽  
Masahiko Watanabe ◽  
Hisatomo Kowa ◽  
Shigeo Murayama ◽  
Takehiko Mizuno ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Japanese Family

A novel mutation (86insA) in the alpha-sarcoglycan-gene leads to severe childhood autosomal recessive muscular dystrophy

2004 ◽  
Vol 35 (01) ◽  
Author(s):  
GP Ramelli ◽  
F Joncourt ◽  
M Gasparini ◽  
P Tonin
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Novel Mutation

scholarly journals Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Rei Hirose ◽  
Yuya Tsurutani ◽  
Chiho Sugisawa ◽  
Kosuke Inoue ◽  
Sachiko Suematsu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Succinate Dehydrogenase ◽  
Novel Mutation ◽  
Case Reports ◽  
Site Mutation ◽  
Japanese Family ◽  
Paraganglioma Syndrome ◽  
Succinate Dehydrogenase Subunit B ◽  
Hereditary Pheochromocytoma ◽  
Subunit B

Abstract Background Pheochromocytoma and paraganglioma caused by succinate dehydrogenase gene mutations is called hereditary pheochromocytoma/paraganglioma syndrome. In particular, succinate dehydrogenase subunit B mutations are important because they are strongly associated with the malignant behavior of pheochromocytoma and paraganglioma . This is a case report of a family of hereditary pheochromocytoma/paraganglioma syndrome carrying a novel mutation in succinate dehydrogenase subunit B. Case presentation A 19-year-old Japanese woman, whose father died of metastatic paraganglioma, was diagnosed with abdominal paraganglioma, and underwent total resection. Succinate dehydrogenase subunit B genetic testing detected a splice-site mutation, c.424-2delA, in her germline and paraganglioma tissue. Afterwards, the same succinate dehydrogenase subunit B mutation was detected in her father’s paraganglioma tissues. In silico analysis predicted the mutation as “disease causing.” She is under close follow-up, and no recurrence or metastasis has been observed for 4 years since surgery. Conclusions We detected a novel succinate dehydrogenase subunit B mutation, c.424-2delA, in a Japanese family afflicted with hereditary pheochromocytoma/paraganglioma syndrome and found the mutation to be responsible for hereditary pheochromocytoma/paraganglioma syndrome. This case emphasizes the importance of performing genetic testing for patients with pheochromocytoma and paraganglioma suspected of harboring the succinate dehydrogenase subunit B mutation (that is, metastatic, extra-adrenal, multiple, early onset, and family history of pheochromocytoma and paraganglioma) and offer surveillance screening to mutation carriers.

A Novel Missense Mutation (p.P52R) in Amelogenin Gene Causing X-linked Amelogenesis Imperfecta

2007 ◽  
Vol 86 (1) ◽  
pp. 69-72 ◽  
Author(s):  
M. Kida ◽  
Y. Sakiyama ◽  
A. Matsuda ◽  
S. Takabayashi ◽  
H. Ochi ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Dental Enamel ◽  
Fluorescence Analysis ◽  
Hereditary Disease ◽  
Amelogenesis Imperfecta ◽  
X Ray Diffraction ◽  
Japanese Family ◽  
X Ray ◽  
Amelogenin Gene

Amelogenesis imperfecta (AI) is a hereditary disease with abnormal dental enamel formation. Here we report a Japanese family with X-linked AI transmitted over at least four generations. Mutation analysis revealed a novel mutation (p.P52R) in exon 5 of the amelogenin gene. The mutation was detected as heterozygous in affected females and as hemizygous in their affected father. The affected sisters exhibited vertical ridges on the enamel surfaces, whereas the affected father had thin, smooth, yellowish enamel with distinct widening of inter-dental spaces. To study the pathological cause underlying the disease in this family, we synthesized the mutant amelogenin p.P52R protein and evaluated it in vitro. Furthermore, we studied differences in the chemical composition between normal and affected teeth by x-ray diffraction analysis and x-ray fluorescence analysis. We believe that these results will greatly aid our understanding of the pathogenesis of X-linked AI.

A Japanese family with familial nonautoimmune hyperthyroidism with a novel mutation (Asn406Ser) in extracellular domain of thyrotrophin receptor

2012 ◽  
Vol 77 (2) ◽  
pp. 329-330 ◽  
Author(s):  
Shuji Fukata ◽  
Akira Hishinuma ◽  
Nobuhiro Nakatake ◽  
Junichi Tajiri
Keyword(s):  
Novel Mutation ◽  
Extracellular Domain ◽  
Japanese Family

Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene

2014 ◽  
Vol 24 (6) ◽  
pp. 529-532 ◽  
Author(s):  
Ulrike Bonati ◽  
Nina Bechtel ◽  
Karl Heinimann ◽  
Erich Rutz ◽  
Jacques Schneider ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Congenital Muscular Dystrophy ◽  
Lmna Gene

Expression of a mutated allele, non-reduced by aging, in a Japanese family with localized epidermolysis bullosa simplex due to a novel mutation, p.Arg169Gly, of keratin 5 gene

2013 ◽  
Vol 23 (2) ◽  
pp. 267-269 ◽  
Author(s):  
Keiichi Uchiyama ◽  
Gen Nakanishi ◽  
Noriki Fujimoto ◽  
Hajime Nakano ◽  
Daisuke Sawamura ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Novel Mutation ◽  
Epidermolysis Bullosa Simplex ◽  
Japanese Family ◽  
Keratin 5

Novel mutation of the ferrochelatase gene in a Japanese family with erythropoietic protoporphyria

2020 ◽  
Vol 47 (4) ◽  
Author(s):  
Akimasa Saito ◽  
Naoko Okiyama ◽  
Sae Inoue ◽  
Noriko Kubota ◽  
Yoshiyuki Nakamura ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Erythropoietic Protoporphyria ◽  
Japanese Family

scholarly journals Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly

Gene ◽  
2014 ◽  
Vol 539 (2) ◽  
pp. 279-282 ◽  
Author(s):  
Samira Ismail ◽  
Ashleigh E. Schaffer ◽  
Rasim O. Rosti ◽  
Joseph G. Gleeson ◽  
Maha S. Zaki
Keyword(s):  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Congenital Muscular Dystrophy

Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1

Neurogenetics ◽  
2011 ◽  
Vol 12 (2) ◽  
pp. 117-121 ◽  
Author(s):  
Hiroyuki Ishiura ◽  
Yoko Fukuda ◽  
Jun Mitsui ◽  
Yasuo Nakahara ◽  
Budrul Ahsan ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Novel Mutation ◽  
Posterior Column ◽  
Japanese Family

Ataxia with isolated vitamin E deficiency: A Japanese family carrying a novel mutation in the α-tocopherol transfer protein gene

1999 ◽  
Vol 45 (6) ◽  
pp. 809-812 ◽  
Author(s):  
Masataka Hoshino ◽  
Naoki Masuda ◽  
Yasuhiko Ito ◽  
Miho Murata ◽  
Jun Goto ◽  
...  
Keyword(s):  
Vitamin E ◽  
Protein Gene ◽  
Novel Mutation ◽  
Vitamin E Deficiency ◽  
Japanese Family ◽  
Transfer Protein
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