C.P.14 A four-generation Japanese family with autosomal dominant nemaline myopathy associated with dilated cardiomyopathy

2012 ◽  
Vol 22 (9-10) ◽  
pp. 845
Author(s):  
Y. Ichikawa ◽  
J. Goto ◽  
H. Ishiura ◽  
Y. Oya ◽  
H. Kowa ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Autosomal Dominant ◽  
Nemaline Myopathy ◽  
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 Case of Nemaline Myopathy With Associated Dilated Cardiomyopathy and Respiratory Failure

2011 ◽  
Vol 52 (6) ◽  
pp. 401-405 ◽  
Author(s):  
Rihito Nagata ◽  
Daisuke Kamimura ◽  
Yoji Suzuki ◽  
Toshihiko Saito ◽  
Hideshi Toyama ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Dilated Cardiomyopathy ◽  
Nemaline Myopathy

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.

Molecular signatures of Emery–Dreifuss muscular dystrophy

2008 ◽  
Vol 36 (6) ◽  
pp. 1354-1358 ◽  
Author(s):  
Matthew A. Wheeler ◽  
Juliet A. Ellis
Keyword(s):  
Muscular Dystrophy ◽  
Dilated Cardiomyopathy ◽  
Molecular Mechanisms ◽  
Autosomal Dominant ◽  
Signalling Pathways ◽  
Lamin A ◽  
Degenerative Diseases ◽  
Hypertrophic Growth ◽  
Genes Encoding

Mutations in genes encoding the nuclear envelope proteins emerin and lamin A/C lead to a range of tissue-specific degenerative diseases. These include dilated cardiomyopathy, limb-girdle muscular dystrophy and X-linked and autosomal dominant EDMD (Emery–Dreifuss muscular dystrophy). The molecular mechanisms underlying these disorders are poorly understood; however, recent work using animal models has identified a number of signalling pathways that are altered in response to the deletion of either emerin or lamin A/C or expression of Lmna mutants found in patients with laminopathies. A distinguishing feature of patients with EDMD is the association of a dilated cardiomyopathy with conduction defects. In the present article, we describe several of the pathways altered in response to an EDMD phenotype, which are known to be key mediators of hypertrophic growth, and focus on a possible role of an emerin–β-catenin interaction in the pathogenesis of this disease.

scholarly journals Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease

2002 ◽  
Vol 39 (6) ◽  
pp. 981-990 ◽  
Author(s):  
Eloisa Arbustini ◽  
Andrea Pilotto ◽  
Alessandra Repetto ◽  
Maurizia Grasso ◽  
Andrea Negri ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Atrioventricular Block ◽  
Autosomal Dominant ◽  
Lamin A ◽  
Related Disease

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
Sign in / Sign up

Export Citation Format

Share Document