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RMRP mutations in Japanese patients with cartilage‐hair hypoplasia
Author(s) -
Nakashima Eiji,
Mabuchi Akihiko,
Kashimada Kenichi,
Onishi Toshikazu,
Zhang Junwei,
Ohashi Hirofumi,
Nishimura Gen,
Ikegawa Shiro
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20281
Subject(s) - hypoplasia , mutation , genetics , gene duplication , allele , phenotype , gene , biology , cartilage , genotype phenotype distinction , microbiology and biotechnology , anatomy
We examined 12 Japanese patients with metaphyseal chondrodysplasia (MCD) for mutations in the ribonuclease mitochondrial RNA processing gene ( RMRP ), and identified four novel mutations in two patients with typical and atypical cartilage‐hair hypoplasia (CHH), a form of MCD characterized by extra‐skeletal manifestations including hypoplastic hair and defective immunity. A patient with typical CHH had a 17‐bp duplication at +3 and a de novo 182G > A. The other patient with atypical CHH had a 17‐bp insertion at −20 and a 218A > G. Expression analysis revealed that the allele with this insertion mutation in the promoter region silenced the gene. Spectrum analysis of the mutations and polymorphisms in RMRP showed marked difference between the Japanese and other ethnic groups. Such ethnic and phenotypic difference should be taken into account in mutation analysis of the gene. © 2003 Wiley‐Liss, Inc.