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RMRP and Cartilage-Hair Hypoplasia 

RMRP and Cartilage-Hair Hypoplasia
Chapter:
RMRP and Cartilage-Hair Hypoplasia
Author(s):

Pia Hermanns

, Bernhard Zabel

, and Brendan H. Lee

DOI:
10.1093/med/9780199934522.003.0160
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date: 04 March 2021

Cartilage hair hypoplasia (CHH) is an autosomal recessive inherited osteochondrodysplasia. Its skeletal manifestations are often associated with deficient hair growth and, in a minority of patients, with multisystemic disease characterized by increased frequency of infantile or childhood infection, defective cellular immunity and/or erythropoiesis, and gastrointestinal dysfunction. The probability of malignancy is also increased. CHH is caused by mutations in the nuclear encoded and ubiquitously expressed noncoding RNA gene, RMRP. Mutations in both the transcript and the promoter of RMRP have been identified. RMRP is the RNA component of the ribonucleoprotein complex ribonuclease mitochondrial RNA processing (RNase MRP). The pathogenesis of CHH is not yet completely understood, but it seems that alterations of ribosomal processing are associated with altered cytokine production and cell cycle progression in terminally differentiating cells (see Rogler et al., 2014)

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