Novel mutation in boy with Cartilage-hair hypoplasia

I. Chun Lin, Hong Ren Yu, Ying Jui Lin, Tzu Jou Wang*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

3 Scopus citations


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

Original languageEnglish
Pages (from-to)326-329
Number of pages4
JournalPediatrics and Neonatology
Issue number6
StatePublished - 12 2010


  • Cartilage-hair hypoplasia
  • Immunodeficiency
  • RNA component of the mitochondrial RNA processing endoribonuclease gene (RMRP)
  • Short stature


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