Deafness, dystonia, and central hypomyelination syndrome caused by BCAP31 gene mutation: a case report

VernacularTitle:BCAP31基因变异致耳聋-肌张力障碍-脑髓鞘发育不良1例
Author: Yunan WANG ¹ ; Mengru ZHU ; Wei XU
Author Information

1. 吉林大学第一医院儿童医院小儿ICU科，长春　130021
Publication Type:Journal Article
Keywords: BCAP31 gene; Deafness, dystonia, and central hypomyelination; Feeding difficulties; Elevated liver enzyme levels
From: Chinese Journal of Perinatal Medicine 2025;28(6):517-519
CountryChina
Language:Chinese
Abstract: This article reported a case of deafness, dystonia, and central hypomyelination (DDCH) caused by BCAP31 gene mutation. The patient was a 57-day-old male infant with obvious feeding difficulties, delayed growth and development, and elevated liver enzyme levels. Whole-exome sequencing revealed a de novo heterozygous mutation of c.32(exon2)delT/p.F11Sfs*34(NM_001256447) in the BCAP31 gene. His mother carried the heterozygous mutation, while his father had the wild-type gene. Based on clinical manifestations, a diagnosis of DDCH was made. The patient was treated with nutritional support, liver protection treatment, and symptomatic therapy and discharged at 93 days of age. A telephone follow-up two weeks after discharge reported that the infant still had feeding problems, had not gained any weight, cried a lot, and was hard to be soothed when crying. The infant died at 121 days of age.