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Letter

Nature Genetics 40, 443–448 (1 April 2008) | doi:10.1038/ng.97

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Carmen C Leitch , Norann A Zaghloul , Erica E Davis , Corinne Stoetzel , Anna Diaz-Font , Suzanne Rix , Majid Alfadhel , Richard Alan Lewis , Wafaa Eyaid , Eyal Banin , Helene Dollfus , Philip L Beales , Jose L Badano & Nicholas Katsanis

Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic neural tube defect (NTD). To date, several MKS-associated genes have been identified whose protein products affect ciliary function.