Familial Idiopathic Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

Ishida, Shunichi; Isotani, Haruhiko; Kameoka, Keiichi; Kishi, Toshiyuki

doi:10.2169/internalmedicine.40.110

Cited by 7 publications

(3 citation statements)

References 15 publications

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“…Families C, D, and F have been reported elsewhere 211 12 For convenience, each person is indicated by a family/pedigree number, for example, the proband of family A is described as case A/II.1.…”

Section: Methodsmentioning

confidence: 99%

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

et al. 2001

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We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with the HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) (MIM 146255). Fluorescence in situ hybridisation and microsatellite analyses showed heterozygous gross deletions including GATA3 in four families. Sequence analysis showed heterozygous novel mutations in three families: a missense mutation within the first zinc finger domain at exon 4 (T823A, W275R), an unusual mutation at exon 4 (900insAA plus 901insCCT or C901AACCCT) resulting in a premature stop at codon 357 with loss of the second zinc finger domain, and a nonsense mutation at exon 6 (C1099T, R367X). No GATA3 abnormalities were identified in the remaining two families. The triad of HDR syndrome was variably manifested by patients with GATA3 abnormalities. The results suggest that HDR syndrome is primarily caused by GATA3 haploinsuYciency and is associated with a wide phenotypic spectrum. (J Med Genet 2001;38:374-380)

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Section: Methodsmentioning

confidence: 99%

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

et al. 2001

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“…In humans, VDR gene variants have also been linked to changes in cognitive function and depressive symptoms in old age, whereas vitamin D 3 insufficiency increases age-related diseases and mortality [23,[27][28][29][30][31][32][33][34]. Both hypervitaminosis and hypovitaminosis D 3 , as well as impaired VDR function and hypoparathyroidism, have been suggested to cause sensorineural hearing loss [35][36][37][38][39][40].…”

Section: Introductionmentioning

confidence: 99%

Premature aging in vitamin D receptor mutant mice

Keisala

Minasyan

Lou

et al. 2009

The Journal of Steroid Biochemistry and Molecular Biology

123

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“…Vitamin D deficiency is a common factor in the reduction of bone-mineral density, and is associated with an increased risk of several chronic age-related diseases [Javaid et al, 2006;Zittermann, 2003]. Vitamin D deficiency, VDR malfunction, hypoparathyroidism, and hypervitaminosis have long been suggested to be potential causes of sensorineural hearing loss [Brookes and Morrison, 1981;Brookes, 1983Brookes, , 1985Cohen et al, 1979;Ikeda et al, 1989Ikeda et al, , 1987Ishida et al, 2001;Ziporyn, 1983].…”

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Progressive Hearing Loss in Mice with a Mutated Vitamin D Receptor Gene

Zou¹,

Minasyan

Keisala

et al. 2008

Audiol Neurotol

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Background: Both hypo- and hypervitaminosis D can cause sensorineural hearing loss, and aural symptoms due to vitamin D insufficiency are especially common during gravidity. Hormonal forms of vitamin D regulate transcription by binding with the high-affinity vitamin D receptor (VDR). Objective: To assess the effects of impaired vitamin D action in VDR knockout (KO) mice on hearing, cochlear morphology, and cochlear gene expression. Materials and Methods: Eighteen young male and female mice (10 VDR KO and 8 wild type, WT, ≤6 months old), 33 adult male and female mice (16 VDR KO and 17 WT, between 7 and 14 months old), and 11 aged male and female mice (5 VDR KO and 6 WT, ≧15 months old) on 129S1 genetic background were studied. Auditory thresholds were evaluated by auditory brain stem response. Morphological changes were analyzed using plastic embedding and light microscopy. The expression of key genes (known to play a role in the regulation of cochlear function), and caspase 3 activity, were assessed using immunofluorescent confocal microscopy. Results: There was a statistically significant difference between the young and the adult groups, and between the adult and aged groups of WT mice. There was also a statistically significant difference between the adult and aged groups in VDR KO mice, and between the young WT group and the young VDR KO group. Spiral ganglion cell loss was observed in the basal turn of adult VDR KO mice, a phenomenon infrequently found in WT mice. Expression of connexin 26, KCNJ10, and transient receptor potential channel vanilloid subfamily 4/6 was not affected by VDR KO-mediated hearing loss. Caspase 3 activation was detected in the spiral ganglion cell and its satellite cells, stria vascularis, spiral ligament fibrocytes, and the organ of Corti in both genotypes. However, the percentage of positive cells and the staining intensity were lower in the VDR KO (compared to the WT) mice. Conclusion: These data suggest that sensorineural hearing loss progressively developed at an earlier age in VDR KO mice. While the fundamental gene expressions in the cochlea were not influenced by VDR mutation, it resulted in decrease of caspase 3 activation, which may be one of the factors underlying accelerating age-related hearing loss observed in VDR KO mice.

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Familial Idiopathic Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

Cited by 7 publications

References 15 publications

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

Premature aging in vitamin D receptor mutant mice

Progressive Hearing Loss in Mice with a Mutated Vitamin D Receptor Gene

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