A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis

  title={A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis},
  author={O. Reish and Liam Aspit and Arielle Zouella and Y. Roth and S. Polak‐Charcon and Tatiana Baboushkin and Lilach Benyamini and T. Scheetz and H. Mussaffi and V. Sheffield and R. Parvari},
  journal={Human Mutation},
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 NME7 protein is a component of the γ‐tubulin ring complex. This mutation is… Expand
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