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New ocular finding in Baraitser-Winter syndrome (BWS).

Abstract：

:Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic features, deafness, microcephaly, lissencephaly, and CNS findings (Baraitser and Winter 1988; Ganesh et al., 2005; Henedy et al., 2010; Verloes et al., 2015). The syndrome is due to pathogenic variants on either ACTB or ACTG1 genes (Di Donato et al., 2014; Rivière et al., 2012). There is still discussion which gene variant produces a more severe phenotype (Di Donato et al., 2016; Di Donato et al., 2014; Verloes et al., 2015). We report a 3-year-old girl with short stature, mild global developmental delay, minor brain anomalies and few dysmorphic features including unusual stroma of the irises and unreported corectopia. Exome sequencing reported a de novo likely pathogenic variant on the ACTB gene. The present report adds a new ocular finding to the phenotypic spectrum.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Rall N,Leon A,Gomez R,Daroca J,Lacassie Y

doi

10.1016/j.ejmg.2017.10.006

subject

Has Abstract

pub_date

2018-01-01 00:00:00

pages

21-23

issue

1

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(17)30156-8

journal_volume

61

pub_type

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