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

Fujimoto, Shinji; Yokochi, Kenji; Morikawa, Haruko; Nakano, Masao; Shibata, Hideo; Togari, Hajime; Wada, Yoshiro

doi:10.1002/(sici)1096-8628(19991029)86:5<427::aid-ajmg6>3.0.co;2-i

Cited by 28 publications

(19 citation statements)

References 8 publications

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“…However, as depicted in Figure 2, the predicted amino acid sequence is quite different from those of wild type homologous/orthologous genes. In addition, the association of neurological complications, such as repetitive cerebral infarctions, with a GAT A3 gene mutation has also been reported 14 . In Figure 1, the hitherto reported mutations in the GATA3 gene are summarized 3 " 7 , and it is apparent that the 405insC mutation is the first to destroy the entire TA2 domain (and two zinc fingers).…”

Section: Discussionmentioning

confidence: 97%

A Novel Mutation in the GATA3 Gene in a Family with HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Anomaly Syndrome)

Adachi

Tachibana²,

Asakura³

et al. 2006

Journal of Pediatric Endocrinology and Metabolism

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We report here on a girl and her father with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). The proband, an 11 year-old girl, complained of periodic tetany lasting for 6 years, and also used a hearing aid because of sensorineural hearing impairment. Furthermore, she had hemimegalencephaly, and had been taking an anti-epileptic agent to treat psychomotor seizures for 6 years. Endocrine assessment showed modest hypocalcemia, hyperphosphatemia and hypophosphaturia with lower normal parathyroid hormone concentration, and she had no renal abnormalities. Her father, who was 40 years old at the time of the investigation, had sensorineural hearing impairment, a lower than normal calcium level and normal renal function. Direct sequencing after PCR amplification of genomic DNA revealed a novel insertional mutation (405insC) in the GATA3 gene of both patients. This mutation was hypothesized to disrupt dual zinc fingers as well as one transactivating domain. The present findings lend additional support to the notion that the phenotype cannot be precisely estimated from the genotype in HDR syndrome.

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Section: Discussionmentioning

confidence: 97%

A Novel Mutation in the GATA3 Gene in a Family with HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Anomaly Syndrome)

Adachi

Tachibana²,

Asakura³

et al. 2006

Journal of Pediatric Endocrinology and Metabolism

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“…In 1992, Bilous et al [1] described two brothers and two daughters of one of the affected brothers with hypoparathyroidism, sensorineural deafness, and renal dysplasia. Subsequently, other reports appeared in the literature confirming that the syndrome is associated with a wide phenotype spectrum, consisting of hypoparathyroidism, sensorineural deafness, and renal disease [4, 7, 9, 13, 14]. Patients may present with hypocalcemia, tetany, or afebrile convulsions at any age.…”

Section: Discussionmentioning

confidence: 99%

“…Hasegawa et al [7] found reports of 14 patients with deletion of 10p13; five had hypoparathyroidism or hypocalcemia, 6 had urinary tract abnormalities, and 2 had deafness. Fujimoto et al [9] reported a Japanese boy with associated recurrent cerebral infarctions in the basal ganglia. Lichtner et al [15] performed molecular deletion analysis of two patients with partial monosomy 10p and hypoparathyroidism, deafness and renal dysplasia, or renal insufficiency, cardiac defect, cleft palate, and reduced T-cell levels.…”

Section: Discussionmentioning

confidence: 99%

Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome

Maleki

Bashardoust

Alamdari

et al. 2013

Case Reports in Nephrology

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Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature. Here, we report a case of 58-year-old man from Ardabil who presented with seizure due to hypocalcemia. Further history revealed bilateral deafness. Audiogram confirmed sensorineural hearing loss of both sides. His laboratory data were consistent with hypoparathyroidism and renal failure. He was diagnosed to have Barakat syndrome based on his clinical and laboratory data. In conclusion, we need to be aware of rare inherited conditions in a patient with abnormal physical and laboratory findings even though their initial presentation was seizure and hypocalcemia.

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“…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: 99%

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

Looij

Burg²,

Giessen³

et al. 2005

Neurobiology of Disease

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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

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

Cited by 28 publications

References 8 publications

A Novel Mutation in the GATA3 Gene in a Family with HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Anomaly Syndrome)

A Novel Mutation in the GATA3 Gene in a Family with HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Anomaly Syndrome)

Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome

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

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