Wu Tian,Wu Shuihua.Brain malformation with or without urethral defect due to NFIA gene mutation: one case report with a literature review[J].Journal of Clinical Pediatric Surgery,,20():866-870.[doi:10.12260/lcxewkzz.2021.09.013]
Brain malformation with or without urethral defect due to NFIA gene mutation: one case report with a literature review
- Keywords:
- NFIA gene; premature craniosynostosis; brain malformations with or without urethral defects
- CLC:
- R394.112;R695.3;R651
- Abstract:
- Objective To explore the clinical characteristics and gene mutation status of a child with brain malformation with or without urethral defects due to NFIA gene mutation and improve the understanding of the disease.Methods Clinical data were collected from a child with brain malformations with or without urethral defects due to NFIA gene mutation.Next-generation and Sanger sequencing technologies were utilized for examining the mutations.And a literature search was performed for reviewing the medical records of 27 cases related to NFIA gene mutations and chromosome 1p32-p31 deletions.Results The child was a female with multiple system problems of small corpus callosum, enlarged ventricles, retarded mental development, craniosynostosis, Arnold-Chiari malformation and abnormal liver function.Genetic testing indicated that she carried the NFIA gene c.1051C>T(p.Arg351*) heterozygous mutation, a new mutation and not previously reported in the databases of gnomAD and ExAC; analysis and prediction of biological information analysis software hinted at a pathogenic mutation.Through searching the literature database, one child of our center was added for analyzing clinical characteristics and gene mutation characteristics of a total of 27 children with brain malformations with or without urethral defects.The ratio of male-to-female was 15:12.There were corpus callosum abnormality (24/27), enlarged ventricles (23/27), macrocephaly (22/27), craniosynostosis (5/27), developmental delay (25/27), Arnold-Chiari malformation (7/27) and urinary system disease (10/27).Conclusion The new pathogenic site c.1051C>T (p.Arg351*) of NFIA gene mutations enriches the mutation spectrum of NFIA.By analyzing the clinical manifestations of children with brain malformations with or without urethral defects, we deepens the understanding of brain malformations with or without urethral defects.
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Memo
收稿日期:2021-04-05。
基金项目:先天性神经系统畸形产前产后一体化防治策略研究及应用推广（编号：2019SK1010）
通讯作者:吴水华,Email:292454021@qq.com