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

Nakamura, Akie; Fujiwara, Fumie; Hasegawa, Yukihiro; Ishizu, Katsura; Mabe, Akiyo; Nakagawa, Hiromi; Nagasaki, Keisuke; Jo, Wakako; Tajima, Toshihiro

doi:10.1507/endocrj.k10e-246

Cited by 28 publications

(22 citation statements)

References 20 publications

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“…Loss-of-function mutations of Gata3 have been reported to be associated with HDR syndrome. Importantly, a mutation in Arg-261 was found in patients with familial hypoparathyroidism and deafness syndrome (45). Thus, arginine methylation has a pivotal role in regulating the expression of Gata3 target genes in the parathyroid glands and inner ear, together with Th2 cells.…”

Section: Discussionmentioning

confidence: 99%

Methylation of Gata3 Protein at Arg-261 Regulates Transactivation of the Il5 Gene in T Helper 2 Cells

Hosokawa¹,

Kato²,

Tohyama³

et al. 2015

Journal of Biological Chemistry

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Background: Gata3 directly transactivates the Il5 gene. Results: The methylation-mimicking Gata3 mutant at Arg-261 had a selective defect in the induction of IL-5 production via recruitment of Hsp60 to prevent transactivation. Conclusion: Arginine methylation on Gata3 may play a critical role in the organization and function of the Gata3 transcriptional complex. Significance: A new regulatory mechanism of Gata3-mediated Il5 transactivation is revealed.

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Section: Discussionmentioning

confidence: 99%

Methylation of Gata3 Protein at Arg-261 Regulates Transactivation of the Il5 Gene in T Helper 2 Cells

Hosokawa¹,

Kato²,

Tohyama³

et al. 2015

Journal of Biological Chemistry

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“…HDR syndrome can be diagnosed at any age. However, most of the published cases in literature are children, and almost two-third of cases occur in women (5,7). We report the case of a 46-year-old male patient.…”

Section: Discussionmentioning

confidence: 92%

“…Other minor abnormalities associated with the syndrome include female genital malformations, bilateral ptosis of the eyelids, nystagmus, hemimegalencephaly, diffuse goiter, long QT interval, and pyloric stenosis (5)(6)(7). Etiology of ptosis is not well understood.…”

Section: Discussionmentioning

confidence: 99%

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Hypoparathyroidism, Deafness, and Renal Dysplasia

Civan¹

2014

Acta Endo (Buc)

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Background. HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia caused by mutation of the GATA3 gene.Case report. We describe a case of HDR syndrome diagnosed in a 46-yearold male patient. He had hand numbness, intermittent dizziness, and imbalance due to hypocalcemia. Physical examination was slim in appearance, had marfanoid features, and presented the typical apathetic face. He had a narrow rib cage and pectus excavatum deformity. Laboratory findings included serum calcium of 7.4 mg/dL, phosphorus of 4.87 mg/dL, albumin of 4.5 g/dL, intact parathormone (iPTH) of 13.3 pg/mL, 25(OH) D3 vitamin of 16.3 µg/L, daily urinary calcium excretion of 23.4 mg/day. Noncontrast computerized tomography (CT) of the brain showed bilateral basal ganglia calcification. Abdominal ultrasonography and CT showed the absence of renal tissue in the left kidney site and pelvis (left renal aplasia). Audiometry revealed mild sensorineural hearing loss at high frequencies.Conclusions. The patients with HDR syndrome are often diagnosed when they are examined for symptomatic hypoparathyroidism and deafness. To the best our knowledge, the present case is the second case of Barakat Syndrome reported from Turkey. The treatment of HDR syndrome is focused on clinical symptoms. The prognosis of the disease correlates with hypoparathyroidism and the severity of renal disease. HDR syndrome has an autosomaldominant inheritance, screening of family members is recommended for early diagnosis and treatment.

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“…The higher frequencies were more often affected than the lower frequencies. Table 1 presents a review of the audiological data published on HDR syndrome [Bilous et al, 1992;Fujimoto et al, 1999;Hasegawa et al, 1997;Hernández et al, 2007;Lichtner et al, 2000;Moldovan et al, 2011;Muroya et al, 2001;Nakamura et al, 2011;van Looij et al, 2006;Zahirieh et al, 2005]. In addition, van Looij et al [2006] tested speech perception in conditions of noise in 2 HDR patients and reported poor results.…”

Section: Introductionmentioning

confidence: 99%

Audiometric Characteristics of a Dutch Family with a New Mutation in <b><i>GATA3</i></b> Causing HDR Syndrome

Beelen

Leijendeckers²,

Admiraal³

et al. 2014

Audiol Neurotol

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We present the case of a Dutch family with a new mutation (c523_528dup) in GATA3 causing HDR syndrome. HDR syndrome is characterised by hypoparathyroidism, deafness and renal defects. In this study, we describe the audiometric characteristics of 5 patients from this family. Their hearing impairment was congenital, bilateral and symmetric. Audiograms showed mild-to-moderate hearing impairment with a flat audiogram configuration. Higher frequencies tended to be affected more strongly. Cross-sectional analyses showed no progression, and a mean audiogram was established. Psychophysical measurements in 3 HDR patients - including speech reception in noise, loudness scaling, gap detection and difference limen for frequency - were obtained to assess hearing function in greater detail. Overall, the results of the psychophysical measurements indicated characteristics of outer hair cell loss. CT scanning showed no anomalies in 3 of the HDR patients. Although 2 patients displayed vestibular symptoms, no anomalies in the vestibular system were found by vestibulo-ocular examination. Our results are in agreement with the theory that outer hair cell malfunctioning can play a major role in HDR syndrome.

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

Cited by 28 publications

References 20 publications

Methylation of Gata3 Protein at Arg-261 Regulates Transactivation of the Il5 Gene in T Helper 2 Cells

Methylation of Gata3 Protein at Arg-261 Regulates Transactivation of the Il5 Gene in T Helper 2 Cells

Hypoparathyroidism, Deafness, and Renal Dysplasia

Audiometric Characteristics of a Dutch Family with a New Mutation in <b><i>GATA3</i></b> Causing HDR Syndrome

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