HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)

Hasegawa, Tomonobu; Hasegawa, Yukihiro; Aso, Taiji; Koto, Shinobu; Nagai, Toshiro; Tsuchiya, Yutaka; Kim, Kyoung Chang; Ohashi, Hirofumi; Wakui, Keiko; Fukushima, Yoshimitsu

doi:10.1002/(sici)1096-8628(19971231)73:4<416::aid-ajmg9>3.0.co;2-l

Cited by 92 publications

(77 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The sensorineural hearing loss in HDR patients can be both symmetric or asymmetric, and as tested by auditory brainstem response (ABR), conditioned orientation reflex tests or pure tone audiometry, it ranges in level from 40 dB to 105 dB (Bilous et al, 1992;Fujimoto et al, 1999;Hasegawa et al, 1997;Lichtner et al, 2000;Muroya et al, 2001). Although it is clear that hearing loss in HDR is usually somewhat more severe at the higher end of the frequency spectrum Muroya et al, 2001), no systematic audiometric evaluation has yet been made, and the exact pathophysiological mechanism causing the hearing defect remains largely unknown.…”

Section: Introductionmentioning

confidence: 65%

GATA3 haploinsufficiency causes a rapid deterioration of distortion product otoacoustic emissions (DPOAEs) in mice

Looij

Burg²,

Giessen³

et al. 2005

Neurobiology of Disease

View full text Add to dashboard Cite

Human HDR (hypoparathyroidism, deafness and renal dysplasia)-syndrome is caused by haploinsufficiency of zinc-finger transcription factor GATA3. The hearing loss due to GATA3 haploinsufficiency has been shown to be peripheral in origin, but it is unclear to what extent potential aberrations in the outer hair cells (OHCs) contribute to this disorder. To further elucidate the pathophysiological mechanism underlying the hearing defect in HDR-syndrome, we investigated the OHCs in heterozygous Gata3-knockout mice at both the functional and morphological level. While the signal-to-noise ratios of distortion product otoacoustic emissions (DPOAE) in wild type mice did not change significantly during the first half-year of live, those in the heterozygous Gata3 mice decreased dramatically. In addition, both light microscopic and transmission electron microscopic analyses showed that the number of OHCs containing vacuoles was increased in the mutants. Together, these findings indicate that outer hair cell malfunctioning plays a major role in the hearing loss in HDR-syndrome. D

show abstract

Section: Introductionmentioning

confidence: 65%

GATA3 haploinsufficiency causes a rapid deterioration of distortion product otoacoustic emissions (DPOAEs) in mice

Looij

Burg²,

Giessen³

et al. 2005

Neurobiology of Disease

View full text Add to dashboard Cite

show abstract

“…To date, gross deletions, missense mutations, nonsense mutations and small insertions or deletions (resulting in frameshifts) of GATA3 have been reported in human HDR syndrome [2,4,5,[11][12][13][14][15][16], and thus haploinsufficiency of GATA3 is the mechanism of HDR syndrome [11].…”

mentioning

confidence: 99%

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome

et al. 2011

Self Cite

View full text Add to dashboard Cite

“…All four fully affected subjects had similar patterns of sensorineural deafness on audiography. A Japanese girl showing an association of hypoparathyroidism, sensorineural deafness and renal dysplasia has also been documented ( 14). Intravenous pyelography in this patient revealed aplasia of the right kidney and pelvocalyceal deformity of the left kidney.…”

Section: Discussionmentioning

confidence: 99%

“…Renal dysplasia was observed only in the original patient. Aplasia of the right kidney was similar to those reported by Hasegawa et al (14) and Yumita et al (15). Thus, it is suggested that the clinical features of sensorineural deafness and renal abnormalities were not identical in the four previous reports and in our case study.…”

Section: Discussionmentioning

confidence: 99%

Familial Idiopathic Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

et al. 2001

View full text Add to dashboard Cite

Wedescribe a 27-year-old womanwith familial idiopathic hypoparathyroidism, bilateral sensorineural deafness and right renal aplasia. There was a family history of deafness in her father and two other family members with sensorineural deafness, one of whomhad hypoparathyroidism. To our knowledge, there have been four previous reports of idiopathic hypoparathyroidism associated with sensorineural deafness and renal dysplasia. The clinical features were not identical to any of the four previous reports. Although no chromosome abnormalities were present in the patient using standard trypsin G-banding analysis, we speculate that somecommon genetic mutation caused hypoparathyroidism, sensorineural deafness and renal dysplasia. (Internal Medicine 40: 110-113, 2001)

show abstract

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)

Cited by 92 publications

References 14 publications

GATA3 haploinsufficiency causes a rapid deterioration of distortion product otoacoustic emissions (DPOAEs) in mice

GATA3 haploinsufficiency causes a rapid deterioration of distortion product otoacoustic emissions (DPOAEs) in mice

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome

Familial Idiopathic Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

Contact Info

Product

Resources

About