Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B |
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Authors: | Ki Chang-Seok Hong Jong Seo Jeong Gyu-Young Ahn Kyoung Ju Choi Kwang-Mo Kim Duk-Kyung Kim Jung-Won |
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Institution: | (1) Department of Clinical Pathology, Sungkyunkwan University School of Medicine, Samsung Medical Center, 50 Ilwon-dong, Kanagnam-ku, Seoul, 135-710, Korea Tel. +82-2-3410-2705; Fax +82-2-3410-2719 e-mail: culture@med.skku.ac.kr, KR;(2) Department of Internal Medicine, Sungkyunkwan University School of Medicine, Seoul, Korea, KR;(3) Department of Clinical Pathology, Seoul Clinical Laboratories, Seoul Medical Science Institute, Seoul, Korea, KR;(4) Department of Internal Medicine, Han-il General Hospital, Seoul, Korea, KR |
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Abstract: | Mutations in the LMNA gene encoding lamins A and C by alternative splicing have been found to cause at least four different kinds of genetic disorders:
autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2; MIM 181350); limb-girdle muscular dystrophy type 1B (LGMD1B;
MIM 159001); dilated cardiomyopathy type 1A (CMD1A; MIM 115200); and familial partial lipodystrophy (FPLD; MIM 151660). Recently,
we have studied two Korean patients with atrioventricular conduction defects. They had variable extents of muscular dystrophy;
one patient was diagnosed with EDMD2 and the other with LGMD1B. We performed a mutation analysis of the LMNA gene by direct sequencing and found two different missense mutations: R249Q and R377L, in the EDMD2 and LGMD1B patient, respectively.
The R249Q mutation is located within the central rod domain of the LMNA gene, and has been described in at least five unrelated sporadic EDMD2 patients. On the other hand, the R377L mutation, also
located within the rod domain, is a novel mutation, although a histidine substitution instead of leucine (R377H) has been
reported previously in an LGMD1B patient. To our knowledge, this is the first report of LMNA gene mutations in Korean patients with EDMD2 and LGMD1B.
Received: November 19, 2001 / Accepted: February 8, 2002 |
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Keywords: | Lamin A/C LMNA Autosomal dominant Emery-Dreifuss muscular dystrophy EDMD2 Limb-girdle muscular dystrophy 1B LGMD1B |
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