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Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.

Abstract：

: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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Patel N,Khan AO,Mansour A,Mohamed JY,Al-Assiri A,Haddad R,Jia X,Xiong Y,Mégarbané A,Traboulsi EI,Alkuraya FS

doi

10.1016/j.ajhg.2014.04.002

subject

Has Abstract

pub_date

2014-05-01 00:00:00

pages

755-9

issue

5

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(14)00174-8

journal_volume

94

pub_type

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