I-Chun Lin1, Hong-Ren Yu, Ying-Jui Lin, Tzu-Jou Wang. 1. 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.
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.
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.