GATA3 abnormalities in six patients with HDR syndrome

Fukami, Maki; Muroya, Koji; Miyake, Tetsuo; Iso, Manami; Kato, Fumiko; Yokoi, Hisashi; Suzuki, Yoshimi; Tsubouchi, Kazuo; Nakagomi, Yoshiko; Kikuchi, Nobuyuki; Horikawa, Reiko; Ogata, Tsutomu

doi:10.1507/endocrj.k10e-234

Cited by 30 publications

(17 citation statements)

References 10 publications

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“…Interestingly, in several patients a contiguous gene deletion syndrome encompassing a region containing the second DiGeorge syndrome locus ( DGS2 ) as well the GATA3 gene was reported. Those patients presented with variable phenotypes encompassing clinical features of both syndromes [ 50 ].…”

Section: Gata3-hypoparathyroidism Sensorineural Deafness and Renal mentioning

confidence: 99%

Genetics of Congenital Anomalies of the Kidneys and Urinary Tract

Vivante

Hildebrandt

2016

Congenital Anomalies of the Kidney and Urinary Tract

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Section: Gata3-hypoparathyroidism Sensorineural Deafness and Renal mentioning

confidence: 99%

Genetics of Congenital Anomalies of the Kidneys and Urinary Tract

Vivante

Hildebrandt

2016

Congenital Anomalies of the Kidney and Urinary Tract

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“…Loss of chromosome region 10p13-14 has been described in patients with DGSII, characterized by the presentation of heart defects and T-cell deficiency [Schuffenhauer et al, 1995;Daw et al, 1996;Dasoiuki et al, 1997;Lichtner et al, 2000]. Similarly, haploinsufficiency of the region 10p14 ] pter, distal to DGCR2, results in hypoparathyroidism, sensorineural deafness and renal anomaly, features that determine the HDR syndrome Fukami et al, 2011]. In this region, it has been described that the GATA3 gene, which is involved in the embryonic development of the parathyroids, auditory system and kidneys, plays a critical role in the development of different neural populations within the mammalian central nervous system Karunaratne et al, 2002;Lindstrand et al, 2010].…”

Section: Resultsmentioning

confidence: 99%

“…In general, the majority of the pure deletions reported for chromosome 10p are associated with the DiGeorge-like phenotype (DGSII) or with the hypoparathyroidism-sensorineural deafness/renal syndrome (HDR), the latter associated with the GATA3 gene [Schuffenhauer et al, 1995;Dasoiuki et al, 1997;Van Esch et al, 2000;Fukami et al, 2011].…”

Section: Novel Subtelomeric Rearrangement In Mental Retardationmentioning

confidence: 99%

Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3)

Esparza‐Garrido

Velázquez-Wong²,

Aráujo-Solís³

et al. 2012

Mol Syndromol

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Submicroscopic duplications in the Miller-Dieker critical region have been recently described as new genomic disorders. To date, only a few cases have been reported with overlapping 17p13.3 duplications in this region. Also, small deletions that affect chromosome region 10p14→pter are rarely described in the literature. In this study, we describe, to our knowledge for the first time, a 5-year-old female patient with intellectual disability who has an unbalanced 10;17 translocation inherited from the father. The girl was diagnosed by subtelomeric FISH and array-CGH, showing a 4.43-Mb heterozygous deletion on chromosome 10p that involved 14 genes and a 3.22-Mb single-copy gain on chromosome 17p, which includes the critical region of the Miller-Dieker syndrome and 61 genes. The patient’s karyotype was established as 46,XX.arr 10p15.3p15.1(138,206–4,574,436)x1,17p13.3(87,009–3,312,600)x3. Because our patient exhibits a combination of 2 imbalances, she has phenotypic features of both chromosome abnormalities, which have been reported separately. Interestingly, the majority of patients who carry the deletion 10p have visual and auditory deficiencies that are attributed to loss of the GATA3 gene. However, our patient also presents severe hearing and visual problems even though GATA3 is present, suggesting the involvement of different genes that affect the development of the visual and auditory systems.

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“…[78][79][80] it is now widely recognized that HDr is an autosomal dominant disorder caused by mutations of GATA3. 81 Despite an association, the only data regarding HDr syndrome are case reports, so the exact incidence of vur in HDr syndrome remains unknown.…”

Section: Syndromes Associated With Vur In Humansmentioning

confidence: 99%

Genetics of vesicoureteral reflux

et al. 2011

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| Primary vesicoureteral reflux (VUR) is the most common urological anomaly in children, affecting 1-2% of the pediatric population and 30-40% of children presenting with urinary tract infections (UTIs). Refluxassociated nephropathy is a major cause of childhood hypertension and chronic renal failure. The hereditary and familial nature of VUR is well recognized and several studies have reported that siblings of children with VUR have a higher incidence of reflux than the general pediatric population. Familial clustering of VUR implies that genetic factors have an important role in its pathogenesis, but no single major locus or gene for VUR has yet been identified and most researchers now acknowledge that VUR is genetically heterogeneous. Improvements in genome-scan techniques and continuously increasing knowledge of the genetic basis of VUR should help us to further understand its pathogenesis.

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GATA3 abnormalities in six patients with HDR syndrome

Cited by 30 publications

References 10 publications

Genetics of Congenital Anomalies of the Kidneys and Urinary Tract

Genetics of Congenital Anomalies of the Kidneys and Urinary Tract

Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3)

Genetics of vesicoureteral reflux

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