A truncation mutation in the L1CAM gene in a child with hydrocephalus

IF 0.7 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
M. Srinivasamurthy, Nagaraj Kakanahalli, Shreeshail V. Benakanal
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引用次数: 0

Abstract

Hydrocephalus is a neurodevelopmental, X-linked recessive disorder caused by mutations in the L1CAM gene. The L1CAM gene encodes for L1CAM protein which is essential for the nervous system development including adhesion between neurons, Myelination, Synaptogenesis etc. Herein, the present study has reported mutations in L1 syndrome patient with Hydrocephalus and Adducted thumb. Genomic DNA was extracted from patients whole blood (n = 18). The 11 exons of the L1CAM gene were amplified using specific PCR primers. The sequenced data was analysed and the pathogenicity of the mutation was predicted using the various bioinformatics programs: PROVEAN, PolyPhen2, and MUpro. The results revealed that the proband described here had nonsense mutation G1120→T at position 1120 in exon 9 which is in extracellular immunoglobulin domain (Ig4) of the L1CAM gene. This nonsense mutation is found to be truncated with a deleterious effect on developing brain of the child, and this is the first report of this novel mutation in patient with X-linked Hydrocephalus in India.
脑积水儿童L1CAM基因的截断突变
脑积水是一种由L1CAM基因突变引起的神经发育性x连锁隐性疾病。L1CAM基因编码L1CAM蛋白,该蛋白对神经系统的发育至关重要,包括神经元间的粘附、髓鞘形成、突触发生等。在此,本研究报道了脑积水和拇指内收的L1综合征患者的突变。从患者全血中提取基因组DNA (n = 18)。利用特异性PCR引物扩增L1CAM基因的11个外显子。利用PROVEAN、PolyPhen2和MUpro等多种生物信息学软件对测序数据进行分析,并预测突变的致病性。结果表明,该先证者在L1CAM基因的细胞外免疫球蛋白结构域(Ig4)第9外显子1120位发生无义突变G1120→T。这种无义突变被发现被截断,对儿童发育中的大脑产生有害影响,这是印度x连锁脑积水患者中首次报道这种新突变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
AIMS Molecular Science
AIMS Molecular Science BIOCHEMISTRY & MOLECULAR BIOLOGY-
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4
审稿时长
5 weeks
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