Das HDR-Syndrom ist durch Hypoparathyreoidismus, Innenohrschwerhörigkeit und Nierendysplasie gekennzeichnet, sie beruht auf Mutationen des GATA3-Gens, und die Vererbung ist autosomal dominant.
Schwerhörigkeit | |
Bei GATA3-Mutationen kann eine Innenohrschwerhörigkeit auftreten. |
Hypoparathyreoidismus | ||||
AP2S1 | ||||
CASR | ||||
GCM2 | ||||
GNA11 | ||||
HDR-Syndrom | ||||
GATA3 | ||||
Hypoparathyreoidismus-Retardierung-Dysmorphismus-Syndrom | ||||
Kenny-Caffey-Syndrom | ||||
PTH | ||||
1. |
Muroya K et al. (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. |
2. |
Hasegawa T et al. (1997) HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). |
3. |
Barakat AY et al. (1977) Familial nephrosis, nerve deafness, and hypoparathyroidism. |
4. |
Yumita S et al. (1986) Familial idiopathic hypoparathyroidism and progressive sensorineural deafness. |
6. |
Bernardini L et al. (2009) HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. |
7. |
Shaw NJ et al. (1991) Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay. |
8. |
Bilous RW et al. (1992) Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. |
9. |
Lichtner P et al. (2000) An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. |
10. |
Fujimoto S et al. (1999) Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. |
11. |
Van Esch H et al. (1999) Partial DiGeorge syndrome in two patients with a 10p rearrangement. |
12. |
Sun Y et al. (2009) Germinal mosaicism of GATA3 in a family with HDR syndrome. |
13. |
Ferraris S et al. (2009) HDR syndrome: a novel "de novo" mutation in GATA3 gene. |
15. |
Van Esch H et al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome. |
16. |
OMIM.ORG article Omim 146255 |
17. |
Wikipedia Artikel Wikipedia DE (HDR-Syndrom) |