Am J Med Genet A. 2019 Dec 10. doi: 10.1002/ajmg.a.61428. [Epub ahead of print] https://www.ncbi.nlm.nih.gov/pubmed/31821692
A prenatally diagnosed case of Donnai-Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity.
Ozdemir H1, Plamondon J1, Gaskin P2, Asoglu MR1, Turan S1.
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Abstract
Donnai-Barrow syndrome (DBS) is an autosomal recessive disorder characterized by typical craniofacial features, vision and hearing loss, intellectual disability, agenesis of the corpus callosum (ACC), congenital diaphragmatic hernia (CDH), and omphalocele. This condition is associated with loss-of-function mutations in the LRP2 gene. Few cases have been described in the literature. In our case, CDH and ACC were prenatally diagnosed by ultrasound, and the fetus was the product of a first-degree union. Single-nucleotide polymorphism-microarray showed large regions of homozygosity. Whole exome sequencing (WES) was performed and revealed a homozygous frameshift pathogenic variant in LRP2 (c.6978dupG). Here, we present a case of DBS, which diagnosed prenatally via WES in a fetus with CDH and ACC.
© 2019 Wiley Periodicals, Inc.
KEYWORDS:
Donnai-Barrow syndrome; prenatal diagnosis; whole exome sequencing (WES)PMID: 31821692 DOI: 10.1002/ajmg.a.61428
