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A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.

Abstract：

:The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least 3 standard deviation below the mean. The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. It has been reported that WDR62 is the second causative gene of autosomal recessive microcephaly (MCPH2) playing a significant role in spindle formation and the proliferation of neuronal progenitor cells. We report a clinical feature, electroclinical findings, and clinical course of a patient with a severe phenotype of MCPH2 including microcephaly, refractory infantile spasms and intellectual disability. Genetic analysis detected a new homozygous splicing variant c.3335+1G>C in the WD repeat domain 62 (WDR62) gene, inherited from both heterozygous healthy parents, and an additional new heterozygous missense mutation c.1706T>A of G protein-coupled receptor 56 (GPR56) gene inherited from his healthy father. The study seeks to broaden the knowledge of clinical and electroclinical findings of MCPH2 and to contribute to a better characterization of the genotype-phenotype correlation.

journal_name

Brain Dev

journal_title

Brain & development

authors

Nardello R,Fontana A,Antona V,Beninati A,Mangano GD,Stallone MC,Mangano S

doi

10.1016/j.braindev.2017.07.003

subject

Has Abstract

pub_date

2018-01-01 00:00:00

pages

58-64

issue

1

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(17)30186-9

journal_volume

40

pub_type

杂志文章

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