title: Novel mutation in boy with cartilage-hair hypoplasia.
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.
  
  
  CONCLUSIONS
  A novel maternal RMRP mutation was found in a Chinese boy with typical cartilage-hair hypoplasia.
authors.affiliation: Department of Pediatrics, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, 123 Ta-Pei Road, Kaohsiung, Taiwan.
authors.forename: I-Chun
authors.initials: IC
authors.lastname: Lin
authors.forename: Hong-Ren
authors.initials: HR
authors.lastname: Yu
authors.forename: Ying-Jui
authors.initials: YJ
authors.lastname: Lin
authors.forename: Tzu-Jou
authors.initials: TJ
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D004722:Endoribonucleases / Q000235:genetics*; D006197:Hair / Q000002:abnormalities / Q000473:pathology; D006627:Hirschsprung Disease / Q000235:genetics / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000473:pathology; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000151:congenital / Q000235:genetics / Q000473:pathology; D000081207:Primary Immunodeficiency Diseases
chemical_list: D004722:Endoribonucleases; C058330:mitochondrial RNA-processing endoribonuclease