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Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unknown function, was previously shown to underlie this disorder in four unrelated cases. Here we describe four additional individuals from three families, comprising two sporadic subjects (one of whom had no limb malformation) and a mildly affected female with a severely affected son. In the latter family we demonstrate parental mosaicism through deep sequencing of DNA isolated from a variety of tissues, which each contain different levels of mutation. This has important implications for genetic counselling.

Original publication

DOI

10.1111/cge.12721

Type

Journal article

Journal

Clin Genet

Publication Date

09/2016

Volume

90

Pages

270 - 275

Keywords

ZSWIM6, frontonasal malformation, mosaicism, preaxial polydactyly, Abnormalities, Multiple, DNA-Binding Proteins, Female, Humans, Limb Deformities, Congenital, Male, Mandibulofacial Dysostosis, Mosaicism, Mutation, Missense, Pedigree, Phenotype, Pregnancy