Southgate L PMID: 21565291 ? two unrelated pedigrees showed co-segregation of dominant nonsense mutations with Adams-Oliver syndrome 1 (OMIM 100300). Each family had a distinct mutation however both affect the terminal coding exon. Expression analysis of the mutation carriers did not show a reduction in transcript levels. The authors suggest these variants are dominant gain of function mutations. There is no significant evidence of an association between deletion of this gene and an abnormal phenotype.
No focal duplications of this gene have been reported to be associated with an abnormal phenotype at the time of this review.