What causes cartilage-hair hypoplasia (CHH)?

Updated: Aug 06, 2019
  • Author: Alan P Knutsen, MD; Chief Editor: Harumi Jyonouchi, MD  more...
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Answer

Cartilage-hair hypoplasia is an autosomal recessive inherited disorder. In 2001, mutations of the RMRP gene in the RNA component of the gene for RNase MRP on chromosome band 9p12 were identified as the genetic defect in Finnish patients with cartilage-hair hypoplasia. [6] RNase MRP has 2 functions: (1) cleavage of RNA in mitochondrial DNA synthesis and (2) nucleolar cleaving of pre-rRNA. RMRP mutations have also been identified in three additional syndromes: metaphyseal dysplasia without hypotrichosis (OMIM 250460), kyphomelic dysplasia (OMIM 211350), and anauxetic dysplasia (OMIM 607095). [11, 30, 31]


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