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.
Pediatr Neonatol. 2010 Dec;51(6):326-9. doi: 10.1016/S1875-9572(10)60063-0.
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.
软骨-毛发发育不全（MIM 250250）是一种常染色体隐性疾病，具有多种临床表现。临床表型包括不同程度的骨骼和毛发发育不良、细胞和/或体液免疫缺陷以及恶性肿瘤易感性。
我们对一名身材不成比例矮小和头皮毛发脆弱的患者进行了遗传研究。还对患者的父母进行了遗传研究。
在该患者中检测到一种新的母系突变，包括线粒体 RNA 加工内切核糖核酸酶基因（RMRP）RNA 成分的 -13 位核苷酸的 14 个核苷酸重复（g.-26 至-13 dupTACTACTCTGTGAA，启动子区域）和 RMRP 编码序列中核苷酸+230 的 C 到 T 碱基取代（在转录起始位点指定为+1）。
在中国男孩中发现了一种新的 RMRP 母系突变，该男孩患有典型的软骨-毛发发育不全。
