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

  title={Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome},
  author={C. C. Leitch and Norann A. Zaghloul and E. E. Davis and C. Stoetzel and A. Diaz-Font and S. Rix and Majid Alfadhel and R. Lewis and W. Eyaid and Eyal Banin and H. Dollfus and P. Beales and Jose L. Badano and N. Katsanis},
  journal={Nature Genetics},
  • C. C. Leitch, Norann A. Zaghloul, +11 authors N. Katsanis
  • Published 2008
  • Medicine, Biology
  • Nature Genetics
  • 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. Here we show that mutations in MKS1, MKS3 and CEP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or may have a potential epistatic effect on mutations in known BBS-associated loci. Five of six families with both… CONTINUE READING
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