Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus

Abstract

Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker–Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome.

Aim In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families.

Method Single nucleotide polymorphism (SNP) array was performed prenatally for the third affected fetus.

Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation.

Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families.

Keywords

Walker–Warburg syndrome - congenital hydrocephalus - prenatal SNP array - syndromic hydrocephalus

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