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Prenatal presentation and diagnosis of Baraitser‐Winter syndrome using exome sequencing
Author(s) -
Zhang Kermit,
Cox Eleina,
Strom Samuel,
Xu Zhuo Luan,
Disilvestro Alexis,
Usrey Kelly
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61725
Subject(s) - hypertelorism , omphalocele , exome sequencing , cystic hygroma , missense mutation , craniofacial , medicine , exome , presentation (obstetrics) , blepharophimosis , intellectual disability , genetics , pediatrics , bioinformatics , pregnancy , biology , mutation , ptosis , anatomy , obstetrics , fetus , surgery , gene
Abstract Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mutations in the genes ACTB or ACTG1 . The classic presentation of BWCFF is discerned by the combination of unique craniofacial characteristics including ocular coloboma, intellectual disability, and hypertelorism. Congenital contractures and organ malformations are often present, including structural defects in the brain, heart, renal, and musculoskeletal system. However, there is limited documentation regarding its prenatal presentation that may encourage healthcare providers to be aware of this disorder when presented throughout pregnancy. Herein we describe a case of a pregnancy with large cystic hygroma and omphalocele. Whole exome sequencing (WES) was performed and a de novo, heterozygous, likely pathogenic mutation in ACTB was detected, c.1004G>A (p.Arg335His), conferring a diagnosis of BWCFF.

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