一名患有宫内卒中及眼前节发育异常的新生儿的COL4A1基因突变
COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis.
作者信息
Durrani-Kolarik Shaheen, Manickam Kandamurugu, Chen Bernadette
机构信息
Nationwide Children's Hospital, Columbus, Ohio.
Nationwide Children's Hospital, Columbus, Ohio; Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, Ohio; Department of Pediatrics, Ohio State University, Columbus, Ohio.
出版信息
Pediatr Neurol. 2017 Jan;66:100-103. doi: 10.1016/j.pediatrneurol.2016.04.010. Epub 2016 Apr 24.
BACKGROUND
COL4A1 on chromosome 13q34 encodes the alpha 1 chain of type IV collagen, a component of basal membranes. It is expressed mainly in the brain, muscles, kidneys, and eyes. COL4A1 mutations can remain asymptomatic or cause devastating disease. Neonates and children may present with porencephaly, intracerebral hemorrhage, or hemiparesis, whereas adults tend to develop intracranial aneurysms or retinal arteriolar tortuosities.
PATIENT DESCRIPTION
We describe a term infant with encephalomalacia, extensive intrauterine stroke and anterior segment dysgenesis with a de novo mutation in COL4A1.
CONCLUSIONS
Identification of this mutation in affected individuals has implications for perinatal management and genetic counseling.
背景
位于13q34染色体上的COL4A1基因编码IV型胶原的α1链，IV型胶原是基底膜的组成成分。它主要在脑、肌肉、肾脏和眼睛中表达。COL4A1基因突变可能无症状，也可能导致严重疾病。新生儿和儿童可能表现为脑穿通畸形、脑出血或偏瘫，而成年人则倾向于发生颅内动脉瘤或视网膜小动脉迂曲。
患者描述
我们报告一名足月儿，患有脑软化、广泛的宫内卒中及前段发育异常，其COL4A1基因存在新生突变。
结论
在受影响个体中鉴定出这种突变对围产期管理和遗传咨询具有重要意义。
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