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A HomozygousNme7Mutation Is Associated withSitus Inversus Totalis

10 Apr 2016

Abstract excerpt

We investigated the cause of situs inversus totalis (SIT) in two siblings from a consanguineous family. Genotyping and whole-exome analysis revealed a homozygous change in NME7, resulting in deletion of an exon causing an in-frame deletion of 34 amino acids located in the second NDK domain of the protein and segregated with the defective lateralization in the family. NME7 is an important developmental gene, and...

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PMID: 27060491
DOI: 10.1002/humu.22998

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