背景:软骨-毛发发育不全(CHH,OMIM#250250)是一种罕见的常染色体隐性遗传疾病,其中包括软骨-毛发发育不全-无张力发育不良(CHH-AD)谱系障碍。CHH-AD是由线粒体RNA加工核糖核酸内切酶(RMRP)基因的RNA成分中的纯合或复合杂合突变引起的。
方法:这里,我们报告2例韩国儿童CHH-AD。
方法:在第一种情况下,该患者有干phy端发育不良,但无毛发减少,通过全外显子组测序(WES)诊断,只表现出骨骼发育不良,缺乏骨骼外表现,如头发发育不全和免疫缺陷。在第二种情况下,病人有骨骼发育不良,毛发发育不全,和免疫缺陷,由WES鉴定。
方法:第二例是韩国报道的首例CHH。两种情况下的患者都接受了定期的免疫和肺功能检查。
结果:我们的案例表明,出生时身材矮小的儿童,有或没有骨外表现,应包括CHH-AD作为鉴别诊断。
■临床怀疑是最重要的,诊断CHH-AD应考虑RMRP测序。
BACKGROUND: Cartilage-hair hypoplasia (CHH, OMIM # 250250) is a rare autosomal recessive disorder, which includes cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders. CHH-AD is caused by homozygous or compound heterozygous mutations in the RNA component of the mitochondrial RNA-processing Endoribonuclease (RMRP) gene.
METHODS: Here, we report 2 cases of Korean children with CHH-AD.
METHODS: In the first
case, the patient had metaphyseal dysplasia without hypotrichosis, diagnosed by whole exome sequencing (WES), and exhibited only skeletal dysplasia and lacked extraskeletal manifestations, such as hair hypoplasia and immunodeficiency. In the second
case, the patient had skeletal dysplasia, hair hypoplasia, and immunodeficiency, which were identified by WES.
METHODS: The second
case is the first CHH reported in Korea. The patients in both cases received regular immune and lung function checkups.
RESULTS: Our cases suggest that children with extremely short stature from birth, with or without extraskeletal manifestations, should include CHH-AD as a differential diagnosis.
UNASSIGNED: Clinical suspicion is the most important and RMRP sequencing should be considered for the diagnosis of CHH-AD.