7q21.3 Deletion involving enhancer sequences within the gene XXXX presents with @entity717 and split hand-split foot @entity600 with decreased penetrance.

@entity154 @entity8448 @entity38809 @entity6133 @entity600 @entity509 @entity74 @entity20437 @entity717 @entity942 @entity3894
Split hand-split food @entity600 (SHFM) is a @entity154 of limb development that involves the central rays of the autopod and presents with median clefts of the hands and feet. It often includes syndactyly and @entity3894 / @entity509 of the phalanges. SHFM is a @entity74 with high genetic heterogeneity, with at least 6 associated chromosomal loci. A locus in chromosomal region 7q21.3, associated with SHFM is referred to as @entity8448 . Genes considered to be associated with @entity8448 are @entity20437 and @entity6133 . These two genes participate in the Wnt pathway that has a role in limb development. The gene @entity38809 , located proximally (centromeric) to the @entity8448 locus was recently reported to include enhancer sequences involved in limb development in its exons 15 and 17. These sequences were shown to cis-regulate the function of the adjacent SHFM associated genes. We report a family, in which the father and three of his sons carry an approximately 1  Mb deletion in this chromosomal region, arr[hg19]7q21.3(94,769,383-95,801,045)x1. The deleted region is located proximally (centromerically) adjacent to the SHFM region at 7q21.3. It does not include the SHFM candidate genes @entity20437 and @entity6133 , but includes the enhancer sequences within DYNC111 and six other genes centromeric to @entity38809 . All deletion carriers have various degrees of @entity717 while two of them have SHFM. This family is the eighth reported family where a chromosome 7q21.3 deletion co-segregating with SHFM involves the enhancer regions within gene DYNC111, but does not involve the genes @entity20437 and @entity6133 . This is also the third family where decreased penetrance of enhancer-associated SHFM is demonstrated. @entity717 was not observed in the previously reported families and may be associated with @entity942 or more of the 6 genes included in the reported deletion centromeric to @entity38809 .
