A human laterality disorder associated with recessive CCDC11 mutation

Journal of Medical Genetics
Zeev PerlesOrly Elpeleg

Abstract

Significant advancements in understanding the molecular pathophysiology of laterality determination were recently made. However, there are large gaps in our knowledge of the initial processes that lead to laterality defects, such as heterotaxy syndrome (HS, also known as situs ambiguous) and situs inversus totalis (SIT). The former refers to abnormal distribution of visceral organs, and the latter refers to a complete laterality inversion of both abdominal and thoracic viscera. In order to identify a mutated gene in SIT and HS patients, the authors performed homozygosity mapping in a consanguineous family with laterality disorders identified in two siblings. A homozygous deleterious mutation in the CCDC11 gene was identified in the patients. The mutation resulted in an abnormally smaller protein in the patient's skin fibroblasts. The parents and five healthy siblings were heterozygous for the mutation, which was not present in 112 anonymous controls. Few genes have been associated with both SIT and HS, usually accompanied by other abnormalities. The authors suggest that CCDC11 is associated with autosomal recessive laterality defects of diverse phenotype resulting in SIT in one individual family member who is otherwise healthy,...Continue Reading

Citations

Oct 3, 2015·Journal of Medical Genetics·Zeev PerlesNicholas Katsanis
Dec 30, 2014·Trends in Cardiovascular Medicine·Elhadi H AburawiZahurul A Bhuiyan
Aug 11, 2015·Expert Reviews in Molecular Medicine·Hao DengSheng Deng
Jul 14, 2016·European Journal of Human Genetics : EJHG·Aimee D C PaulussenArthur van den Wijngaard
Dec 21, 2018·Circulation·Mary Ella PierpontUNKNOWN American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and
Dec 4, 2014·European Journal of Human Genetics : EJHG·Asaf Ta-ShmaOrly Elpeleg
Apr 23, 2020·Human Reproduction Update·Christiane PleugerMoira K O'Bryan
Nov 2, 2019·Cell·Meisheng MaRui Zhang
Nov 17, 2020·Circulation. Genomic and Precision Medicine·Alvin Chun Hang MaBrian Hon Yin Chung
Jun 15, 2021·Frontiers in Cell and Developmental Biology·Bingbing WuHongbin Liu
Sep 25, 2021·BMC Medical Genomics·Gabrielle WhewayJane S Lucas

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