HDR syndrome is an autosomal dominant disorder causeb by mutations of the GATA3 gene. The clinical features include hypoparathyroidism, sensorineural deafness, and renal dysplasia.
Deafness | |
Sensorineural deafness may occur with GATA3 mutations. |
Hypoparathyroidism | ||||
AP2S1 | ||||
CASR | ||||
GCM2 | ||||
GNA11 | ||||
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome | ||||
GATA3 | ||||
Hypoparathyroidism-retardation-dysmorphism syndrome | ||||
Kenny-Caffey syndrome | ||||
PTH | ||||
1. |
Van Esch H et al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome. |
2. |
Muroya K et al. (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. |
4. |
Ferraris S et al. (2009) HDR syndrome: a novel "de novo" mutation in GATA3 gene. |
5. |
Sun Y et al. (2009) Germinal mosaicism of GATA3 in a family with HDR syndrome. |
6. |
Van Esch H et al. (1999) Partial DiGeorge syndrome in two patients with a 10p rearrangement. |
7. |
Fujimoto S et al. (1999) Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. |
8. |
Lichtner P et al. (2000) An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. |
9. |
Bilous RW et al. (1992) Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. |
10. |
Shaw NJ et al. (1991) Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay. |
11. |
Bernardini L et al. (2009) HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. |
13. |
Yumita S et al. (1986) Familial idiopathic hypoparathyroidism and progressive sensorineural deafness. |
14. |
Barakat AY et al. (1977) Familial nephrosis, nerve deafness, and hypoparathyroidism. |
15. |
Hasegawa T et al. (1997) HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). |
16. |
OMIM.ORG article Omim 146255 |