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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome
American Journal of Human Genetics, Volume 94, No. 5, Year 2014
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Description
We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). In view of the consanguineous nature of the affected families and the likely autosomal-recessive inheritance pattern of this syndrome, we undertook autozygosity mapping and whole-exome sequencing to identify ASPH as the disease locus, in which we identified two homozygous mutations. ASPH encodes aspartyl/asparaginyl β-hydroxylase (ASPH), which has been found to hydroxylate aspartic acid and asparagine residues on epidermal growth factor (EGF)-domain-containing proteins. The truncating and missense mutations we identified are predicted to severely impair the enzymatic function of ASPH, which suggests a possible link to other forms of ectopia lentis given that many of the genes implicated in this phenotype encode proteins that harbor EGF domains. Developmental analysis of Asph revealed an expression pattern consistent with the proposed link to the human syndrome. Indeed, Asph-knockout mice had a foreshortened snout, which corresponds to the facial abnormalities in individuals with Traboulsi syndrome. These data support a genetic basis for a syndromic form of ectopia lentis and the role of aspartyl hydroxylation in human development. © 2014 The American Society of Human Genetics.
Authors & Co-Authors
Patel, Nisha
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Khan, Arif Omar
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
Mansour, Ahmad M.
Lebanon, Beirut
American University of Beirut
Mohamed, Jawahir Y.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Assiri, Abdullah A.
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
Haddad, Randa S.
Lebanon, Beirut
American University of Beirut
Jia, Xiaofei
United States, New Haven
Yale University
Xiong, Yong
United States, New Haven
Yale University
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Traboulsi, Elias I.
United States, Cleveland
Cleveland Clinic Foundation
Alkuraya., Fowzan S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Statistics
Citations: 50
Authors: 11
Affiliations: 7
Identifiers
Doi:
10.1016/j.ajhg.2014.04.002
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Genetics And Genomics