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Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
J Hum Genet. 2002; 47(5):225-8.JH

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.

Authors+Show Affiliations

Department of Clinical Pathology, Sungkyunkwan University School of Medicine, Samsung Medical Center, 50 Ilwon-dong, Kanagnam-ku, Seoul 135-710, Korea. culture@med.skku.ac.krNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12032588

Citation

Ki, Chang-Seok, et al. "Identification of Lamin A/C (LMNA) Gene Mutations in Korean Patients With Autosomal Dominant Emery-Dreifuss Muscular Dystrophy and Limb-girdle Muscular Dystrophy 1B." Journal of Human Genetics, vol. 47, no. 5, 2002, pp. 225-8.
Ki CS, Hong JS, Jeong GY, et al. Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. J Hum Genet. 2002;47(5):225-8.
Ki, C. S., Hong, J. S., Jeong, G. Y., Ahn, K. J., Choi, K. M., Kim, D. K., & Kim, J. W. (2002). Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. Journal of Human Genetics, 47(5), 225-8.
Ki CS, et al. Identification of Lamin A/C (LMNA) Gene Mutations in Korean Patients With Autosomal Dominant Emery-Dreifuss Muscular Dystrophy and Limb-girdle Muscular Dystrophy 1B. J Hum Genet. 2002;47(5):225-8. PubMed PMID: 12032588.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. AU - Ki,Chang-Seok, AU - Hong,Jong Seo, AU - Jeong,Gyu-Young, AU - Ahn,Kyoung Ju, AU - Choi,Kwang-Mo, AU - Kim,Duk-Kyung, AU - Kim,Jung-Won, PY - 2002/5/29/pubmed PY - 2002/7/23/medline PY - 2002/5/29/entrez SP - 225 EP - 8 JF - Journal of human genetics JO - J Hum Genet VL - 47 IS - 5 N2 - 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. SN - 1434-5161 UR - https://www.unboundmedicine.com/medline/citation/12032588/Identification_of_lamin_A/C__LMNA__gene_mutations_in_Korean_patients_with_autosomal_dominant_Emery_Dreifuss_muscular_dystrophy_and_limb_girdle_muscular_dystrophy_1B_ L2 - https://biocyc.org/gene?orgid=HUMAN&id=HS08535 DB - PRIME DP - Unbound Medicine ER -