期刊
FRONTIERS IN GENETICS
卷 13, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2022.872264
关键词
SMPD4; neurodevelopmental disorder (NDD); null variants; microcephaly; structural brain anomalies; arthrogryposis; early death
资金
- National Institutes of Health [2019LZ014]
- Nantong University [2019LZ014]
- Jiangsu Province
- Jiangsu Health Innovation Team Program
Mutations in the SMPD4 gene lead to NEDMABA, a neurodevelopmental disorder. This case study is the first report of NEDMABA in individuals of Chinese ancestry, expanding the understanding of this syndrome.
The SMPD4 gene encodes sphingomyelin phosphodiesterase 4, which preferentially hydrolyzes sphingomyelin over other phospholipids. The biallelic loss-of-function variants of SMPD4 have been identified in a group of children with neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA). Here, we report a girl of Chinese ancestry with intrauterine growth restriction, microcephaly, postnatal developmental delay, arthrogryposis, hypertonicity, seizure, and hypomyelination on brain magnetic resonance imaging; biallelic null variants (c.1347C > G [p.Tyr449*]; Chr2 [GRCh37]: g.130877574_131221737del [whole-gene deletion]) were detected by whole-exome sequencing. Our case is the first report of NEDMABA of Chinese ancestry, confirming the involvement of SMPD4 in NEDMABA and expanding the mutation spectrum of this syndrome.
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