Novel mutation in boy with cartilage-hair hypoplasia

Pediatr Neonatol. 2010 Dec;51(6):326-9. doi: 10.1016/S1875-9572(10)60063-0.

Abstract

Background: Cartilage-hair hypoplasia (MIM 250250) is an autosomal recessive disease with diverse clinical manifestations. The clinical phenotypes include variable degrees of bone and hair dysplasia, deficient cellular and/or humoral immunity, and a predisposition to malignancy.

Methods: We performed genetic studies of a patient with disproportionate short stature and brittle scalp hair. Genetic studies were also carried out in the patient's parents.

Results: A novel maternal mutation that consisted of a duplication of 14 nucleotides at position -13 of the RNA component of the RNA component of mitochondrial RNA processing endoribonuclease gene (RMRP; g. -26 to -13 dupTACTACTCTGTGAA, promoter region) and a paternal mutation base substitution of C to T at nucleotide + 230 (designated as + 1 in the transcription initiation site) in the coding sequence of RMRP were detected in this patient.

Conclusion: A novel maternal RMRP mutation was found in a Chinese boy with typical cartilage-hair hypoplasia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Endoribonucleases / genetics*
  • Hair / abnormalities
  • Hair / pathology
  • Hirschsprung Disease / genetics
  • Hirschsprung Disease / pathology
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / pathology
  • Male
  • Mutation*
  • Osteochondrodysplasias / congenital
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / pathology
  • Primary Immunodeficiency Diseases

Substances

  • Endoribonucleases
  • mitochondrial RNA-processing endoribonuclease

Supplementary concepts

  • Cartilage-hair hypoplasia