Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > HDR syndrome

HDR syndrome

MIM.146255

Tuesday 24 May 2005

HDR syndrome associates hypoparathyroidism, sensorineural deafness, and renal dysplasia.

Etiology

- haploinsufficiency of the GATA3 gene by germline mutations in HDR syndrome

References

- Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA, Thakker RV. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet. 2007 Feb 1;16(3):265-75. PMID: 17210674