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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome
American Journal of Human Genetics, Volume 92, No. 4, Year 2013
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Description
Adams-Oliver syndrome (AOS) is a rare, autosomal-dominant or -recessive disorder characterized primarily by aplasia cutis congenita and terminal transverse limb defects. Recently, we demonstrated that homozygous mutations in DOCK6 cause an autosomal-recessive form of AOS. In this study, we sought to determine the contribution of DOCK6 mutations to the etiology of AOS in several consanguineous families. In two of the five families studied, we identified two homozygous truncating mutations (a splice-site mutation and a frameshift duplication). DOCK6 sequencing revealed no mutation in the remaining three families, consistent with their autozygosity mapping and linkage-analysis results, which revealed a single candidate locus in 3p14.1 on three different haplotype backgrounds in the three families. Indeed, exome sequencing in one family revealed one missense mutation in EOGT (C3orf64), and subsequent targeted sequencing of this gene revealed a homozygous missense mutation and a homozygous frameshift deletion mutation in the other two families. EOGT encodes EGF-domain-specific O-linked N-acetylglucosamine (O-GlcNAc) transferase, which is involved in the O-GlcNAcylation (attachment of O-GlcNAc to serine and threonine residues) of a subset of extracellular EGF-domain-containing proteins. It has a documented role in epithelial-cell-matrix interactions in Drosophila, in which deficiency of its ortholog causes wing blistering. Our findings highlight a developmental role of O-GlcNAcylation in humans and expand the genetic heterogeneity of autosomal-recessive AOS. © 2013 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3617382/bin/mmc1.pdf
Authors & Co-Authors
Shaheen, Ranad
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Aglan, Mona Sabry
Egypt, Giza
National Research Centre
Keppler-Noreuil, Kim M.
United States, Bethesda
National Human Genome Research Institute Nhgri
Faqeih, Eissa Ali
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Ansari, S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Horton, Kim
United States, Iowa City
University of Iowa
Ashour, Adel Mohamed
Egypt, Giza
National Research Centre
Zaki, Maha S.
Egypt, Giza
National Research Centre
Al-Zahrani, Fatema
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Cueto-González, Anna M.
Spain, Barcelona
Hospital Universitari Vall D'hebron
Abdel-Salam, Ghada M.H.
Egypt, Giza
National Research Centre
Temtamy, Samia Ali Li
Egypt, Giza
National Research Centre
Alkuraya., Fowzan S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Statistics
Citations: 106
Authors: 13
Affiliations: 6
Identifiers
Doi:
10.1016/j.ajhg.2013.02.012
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Cancer
Genetics And Genomics