CALL gene is haploinsufficient in a 3p-syndrome patient

The 3p- syndrome results from deletion of a terminal, segment of the short arm of one chromosome 3 (3p25-->pter), and is characterized by multiple con genital anomalies and mental retardation. Due to its variable expression, i t is assumed this disorder is a contiguous gene syndrome with an undefined number of genes contributing to the phenotype, In an effort to discover gen es contributing to mental deflects in 3p- syndrome, we determined whether t he CALL gene, mapped to 3p26.1 and coding far a neural recognition molecule , is deleted in a boy with this disorder. We found that the break in this p atient is distal to the VHL gene, removing D3S18 and the CALL loci, The del etion of one copy of the CALL gene might be responsible for mental defects in patients with 3p- syndrome. Published 1999 Wiley-Liss, Inc.(dagger)