NDLI: FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Content Provider	PubMed Central
Author	Alazami, Anas M. Shaheen, Ranad Alzahrani, Fatema Snape, Katie Anand, Saggar Brinkmann, Bernd Bavi, Prashant Al-gazali, Lihadh I. Alkuraya, Fowzan S.
Copyright Year	2009
Abstract	An autosomal-recessive syndrome of bifid nose and anorectal and renal anomalies (BNAR) was previously reported in a consanguineous Egyptian sibship. Here, we report the results of linkage analysis, on this family and on two other families with a similar phenotype, which identified a shared region of homozygosity on chromosome 9p22.2-p23. Candidate-gene analysis revealed homozygous frameshift and missense mutations in FREM1, which encodes an extracellular matrix component of basement membranes. In situ hybridization experiments demonstrated gene expression of Frem1 in the midline of E11.5 mouse embryos, in agreement with the observed cleft nose phenotype of our patients. FREM1 is part of a ternary complex that includes FRAS1 and FREM2, and mutations of the latter two genes have been reported to cause Fraser syndrome in mice and humans. The phenotypic variability previously reported for different Frem1 mouse mutants suggests that the apparently distinct phenotype of BNAR in humans may represent a previously unrecognized variant of Fraser syndrome.
Related Links	http://dx.doi.org/10.1016/j.ajhg.2009.08.010
Starting Page	414
File Format	PDF
ISSN	15376605
e-ISSN	15376605
Journal	American Journal of Human Genetics
Issue Number	3
Volume Number	85
Language	English
Publisher	Elsevier
Publisher Date	2009-09-11
Access Restriction	Open
Rights Holder	Elsevier
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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