https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Twenty-six novel EFNB1 mutations in familial and sporadic cranlofrontonasal syndrome (CFNS) https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:644 T/R66X, was detected in one family and four sporadic patients. The majority of mutations (26/33) were located in exons 2 and 3 of the EFNB1 gene encoding the extracellular ephrin domain. The mutation spectrum includes frameshift, nonsense, missense, and splice site mutations, with a predominance of frameshift and nonsense mutations resulting in premature truncation codons. For the first time we describe mutations in exons 4 and 5 of EFNB1. Of particular interest are the frameshift mutations located in the last 25 codons of EFNI3 I encoding the carboxyterminal end of ephrin-B1. They result in an extension by 44 residues. These mutations disrupt the intracellular binding sites for Grb4 and PDZ-effector proteins involved in reverse signaling. We conclude that the major causes of familial as well as sporadic CFNS are loss of function mutations in the EFNB1 gene that comprise premature termination or abrogate receptor-ligand interaction, oligomerization, and ephrin-B1 reverse signaling.]]> Thu 25 Jul 2013 09:10:36 AEST ]]> Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:5122 Sat 24 Mar 2018 07:48:57 AEDT ]]>