An autosomal recessive form of syndromic hearing loss caused by homozygous mutation in SLC26A4. Enlarged vestibular aqueducts (EVA) are an invariant feature, with goitre (sometimes leading to hypothyroidism) and Cochlear Mondini Malformation also associated. Heterozygous mutations in SLC26A4 have been associated both with asymptomatic carrier status for Pendred syndrome and also seen in individuals who manifest hearing loss and EVA (non-syndromic EVA).
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
5mls EDTA Blood
Disease / group
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Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis