Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea

摘要

Metaphyseal dysplasia without hypotrichosis (MDWH, OMIM #250460), a rare phenotype of cartilage-hair hypoplasia (CHH, OMIM #250250) - anauxetic dysplasia (AD, OMIM #607095) spectrum disorders, is described as an isolated skeletal dysplasia with no extra skeletal manifestations including hypoplastic hair and defective immunity [1]. Pathogenic variants in RNA component of the mitochondrial RNA-processing endoribonuclease (RMRP) gene cause CHH-AD spectrum disorders with autosomal recessive inheritance [2]. We report the first case in Korea of a girl with compound heterozygous RMRP variants, n.81GA and n.100CT, that were diagnosed as MDWH. The Catholic University of Korea St. Vincent’s Hospital Institutional Review Board, Seoul, Korea, approved this study (number: VC20ZASE0064).