RMRP mutations in Japanese patients with cartilage-hair hypoplasia.

Abstract

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.

• Authors: Eiji Nakashima, Akihiko Mabuchi, Kenichi Kashimada, Toshikazu Onishi, Junwei Zhang, Hirofumi Ohashi, Gen Nishimura, Shiro Ikegawa
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 123A Issue 3 Pg. 253-6 (Dec 15 2003) ISSN: 1552-4825 [Print] United States
• PMID: 14608646 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2003 Wiley-Liss, Inc.

Chemical References

• DNA
• Endoribonucleases
• mitochondrial RNA-processing endoribonuclease

Topics

• Adolescent
• Base Sequence
• Child
• DNA (chemistry, genetics)
• DNA Mutational Analysis
• Endoribonucleases (genetics)
• Female
• Humans
• Japan
• Mutation
• Osteochondrodysplasias (genetics, pathology)
• Promoter Regions, Genetic (genetics)