A De Novo Deletion of CALN1 in a Male With a Bilateral Diaphragmatic Defect Does Not Definitely Cause This Malformation

摘要

The calneuron 1 (CALN1; OMIM 607176) gene is located at chromosome 7q11.22, close to and proximal to the Williams syndrome critical region. CALN1 is highly related to members of the calmodulin superfamily [Wu et al, 2001], and although little is known regarding its function, it has been presumed to be important in calcium binding because of the presence of two conserved EF hand motifs [Wu et al., 2001]. CALN1 expression in humans is strongest in the brain, and it has been hypothesized to play a role in calcium signaling or regulation in neurons and thus to be important for memory formation and/or learning [Wu et al., 2001 ]. We report on a male with a de novo, 1.1 Mb deletion that also interrupted the WBSCR17 and TYW1B genes in addition to deleting CALN1. He had a bilateral diaphragmatic defect for which there was no other obvious syndromic explanation. Four additional patients with CALN1 deletions without CDH who each inherited their deletion from a normal parent are also described (for patient summaries, see Table I).