Ontology highlight
ABSTRACT:
SUBMITTER: Saadi I
PROVIDER: S-EPMC3135813 | biostudies-literature | 2011 Jul
REPOSITORIES: biostudies-literature
Saadi Irfan I Alkuraya Fowzan S FS Gisselbrecht Stephen S SS Goessling Wolfram W Cavallesco Resy R Turbe-Doan Annick A Petrin Aline L AL Harris James J Siddiqui Ursela U Grix Arthur W AW Hove Hanne D HD Leboulch Philippe P Glover Thomas W TW Morton Cynthia C CC Richieri-Costa Antonio A Murray Jeffrey C JC Erickson Robert P RP Maas Richard L RL
American journal of human genetics 20110623 1
Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function mutations in SPECC1L are pathogenic for this human developmental disorder and that SPECC1L is a critical organizer of vertebrate facial morphogenesis. During murine embryogenesis, Specc1l is expressed in cell populations of the developing facial primordial, which proliferate and fuse to form the face. In zebrafish, knockdown of a SPECC1L homol ...[more]