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Article

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

Journal of human genetics - 1 Jan 2006

Hirose Yuichiro, Nakashima Eiji, Ohashi Hirofumi, Mochizuki Hiroshi, Bando Yuki, Ogata Tsutomu, Adachi Masanori, Toba Emi, Nishimura Gen, Ikegawa Shiro

Abstract excerpt

Cartilage-hair hypoplasia (CHH), or metaphyseal dysplasia, McKusick type, is an autosomal recessive disease with diverse clinical manifestations. CHH is caused by mutations in RMRP (ribonuclease mitochondrial RNA processing), the gene encoding the RNA component of the ribonucleoprotein complex RNase MRP. A common founder mutation, 70A>G has been reported in the Finnish and Amish populations. We screened 11...

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PMID: 16832578
DOI: 10.1007/s10038-006-0015-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.PMID 16832578Read ↗

RMRP mutations in Japanese patients with cartilage-hair hypoplasia.Semantic proximity Read ↗

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.Semantic proximity Read ↗

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.Semantic proximity Read ↗

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.Semantic proximity Read ↗

A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia.Semantic proximity Read ↗

RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.Semantic proximity Read ↗

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.Semantic proximity Read ↗

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Novel mutation in boy with cartilage-hair hypoplasia.Semantic proximity Read ↗

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.Semantic proximity Read ↗

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