Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

HDR-Syndrom

Das HDR-Syndrom ist durch Hypoparathyreoidismus, Innenohrschwerhörigkeit und Nierendysplasie gekennzeichnet, sie beruht auf Mutationen des GATA3-Gens, und die Vererbung ist autosomal dominant.

Symptome

Schwerhörigkeit
Bei GATA3-Mutationen kann eine Innenohrschwerhörigkeit auftreten.

Gliederung

Hypoparathyreoidismus
AP2S1
CASR
GCM2
GNA11
HDR-Syndrom
GATA3
Hypoparathyreoidismus-Retardierung-Dysmorphismus-Syndrom
Kenny-Caffey-Syndrom
PTH

Referenzen:

1.

Van Esch H et al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome.

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2.

Muroya K et al. (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.

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3.

Hernández AM et al. (2007) Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.

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4.

Ferraris S et al. (2009) HDR syndrome: a novel "de novo" mutation in GATA3 gene.

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5.

Sun Y et al. (2009) Germinal mosaicism of GATA3 in a family with HDR syndrome.

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6.

Van Esch H et al. (1999) Partial DiGeorge syndrome in two patients with a 10p rearrangement.

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7.

Fujimoto S et al. (1999) Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.

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8.

Lichtner P et al. (2000) An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

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9.

Bilous RW et al. (1992) Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia.

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10.

Shaw NJ et al. (1991) Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

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11.

Bernardini L et al. (2009) HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication.

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12.

Moldovan O et al. (2011) A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernández et al.

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13.

Yumita S et al. (1986) Familial idiopathic hypoparathyroidism and progressive sensorineural deafness.

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14.

Barakat AY et al. (1977) Familial nephrosis, nerve deafness, and hypoparathyroidism.

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15.

Hasegawa T et al. (1997) HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).

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