臨床小児科: オープンアクセス
オープンアクセス

概要

Molecular-Clinical Spectrum of the MRXHF1 Syndrome

Wu Ke1*, Xiaochun Zhu2, Cong Yan3, Wang Hao3, Wang Dong3

Intellectual disability-hypotonic facies syndrome X-linked, 1 (MRXHF1; OMIM #309580) is an X-linked recessive genetic disease caused by mutations in the ATRX gene, involving multiple organ and system abnormalities. The main manifestations include characteristic face, developmental and intellectual disability. In addition, it is also manifested as hypotonia, skeletal abnormalities, cardiac defects, abnormal vision, urogenital system disorders and gut dysmotility. Up to now, a clear diagnosis criterion for MRXHF1 is lacked, which is mainly based on the comprehensive analysis of clinical and genetic results. The main treatment of MRXHF1 is symptomatic and individualized treatment, while early intervention is helpful to improve the prognosis and the quality of life. This study aims to introduce the disease comprehensively, thus enhancing the recognition in MRXHF1.