Germinal mosaicism of GATA3 in a family with HDR syndrome.

摘要

The combination of hypoparathyroidism, sensorineural deafness and renal anomalies (HDR syndrome, OMIM 146255) was described in by Bilous et al. [ 1992]. The pattern of inheritance of this disorder was autosomal dominant. The gene mutated in patients with HDR syndrome was identified during a detailed study of individuals with a DiGeorge-like phenotype associated with deletions of chromosome lOp. Van Esch et al. [2000] performed deletion-mapping studies in two patients with HDR syndrome and defined a critical 200-kb region that contains the GATA3 gene (OMIM 131320). Haploinsufficiency of this gene causes HDR syndrome.