Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

Journal of Medical Genetics
Salima El ChehadehLaurence Faivre

Abstract

Cohen syndrome is a rare autosomal recessive inherited disorder that results from mutations of the VPS13B gene. Clinical features consist of a combination of mental retardation, facial dysmorphism, postnatal microcephaly, truncal obesity, slender extremities, joint hyperextensibility, myopia, progressive chorioretinal dystrophy, and intermittent neutropenia. The aim of the study was to determine which of the above clinical features were the best indicators for the presence of VPS13B gene mutations in a series of 34 patients with suspected Cohen syndrome referred for molecular analysis of VPS13B. 14 VPS13B gene mutations were identified in 12 patients, and no mutation was found in 22 patients. The presence of chorioretinal dystrophy (92% vs 32%, p=0.0023), intermittent neutropenia (92% vs 5%, p<0.001), and postnatal microcephaly (100% vs 48%, p=0.0045) was significantly higher in the group of patients with a VPS13B gene mutation compared to the group of patients without a mutation. All patients with VPS13B mutations had chorioretinal dystrophy and/or intermittent neutropenia. The Kolehmainen diagnostic criteria provided 100% sensibility and 77% specificity when applied to this series. From this study and a review of more than 16...Continue Reading

Citations

Nov 29, 2012·European Journal of Human Genetics : EJHG·Salima El Chehadeh-DjebbarLaurence Faivre
Aug 26, 2011·The Journal of Biological Chemistry·Wenke SeifertHans Christian Hennies
Jul 3, 2013·Archives of Disease in Childhood·C Geoffrey Woods, Alasdair Parker
Dec 18, 2013·Human Molecular Genetics·Laurence DuplombChristel Thauvin-Robinet
Mar 23, 2011·Clinical Genetics·S Douzgou, M B Petersen
Jul 26, 2014·Clinical & Experimental Ophthalmology·Ivan ProkudinHakon Hakonarson
Dec 7, 2013·American Journal of Medical Genetics. Part a·Lucie GueneauChristel Thauvin-Robinet
Dec 1, 2017·Substance Use & Misuse·Fruzsina IszajZsolt Demetrovics
Oct 23, 2013·Current Opinion in Allergy and Clinical Immunology·Fabian Hauck, Christoph Klein
May 17, 2019·Journal of Inherited Metabolic Disease·Carlota PascoalPaula A Videira
Jun 21, 2019·Cellular and Molecular Life Sciences : CMLS·Romain Da CostaLaurence Duplomb
Sep 12, 2020·Investigative Ophthalmology & Visual Science·Vincent LhussiezRomain Da Costa
Aug 14, 2021·Scientific Reports·Pierre-Henry GabrielleRomain Da Costa
Aug 25, 2021·Ophthalmic Genetics·Malena Daich VarelaGavin Arno

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

© 2021 Meta ULC. All rights reserved