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Diagnosing Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome and a Novel Variant.
JCEM Case Rep
January 2025
Division of Endocrinology, Diabetes and Metabolism, The Ohio State University Wexner Medical Center and Arthur G. James Comprehensive Cancer Center, Columbus, OH 43210, USA.
Hypoparathyroidism (hypoPTH), sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant condition with approximately 200 cases published. HDR syndrome is caused by variants of GATA binding protein 3 gene (), which encodes a transcription factor, with multiple types of variants reported. We present the case of a 76-year-old woman who was diagnosed with hypoPTH when she was aged 40 years and transferred care to our institution.
View Article and Find Full Text PDFHypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp.
Endocrinol Diabetes Metab Case Rep
October 2024
Summary: HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding protein 3 (GATA3) gene. We present a case of a 56-year-old male diagnosed with hypoparathyroidism, sensorineural deafness, renal hypoplasia and epilepsy. Genetic testing revealed a novel GATA3 heterozygous mutation c.
View Article and Find Full Text PDFIdentification and in vivo functional analysis of a novel missense mutation in GATA3 causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family.
Endocrine
November 2024
Shengli Clinical Medical College of Fujian Medical University, Fuzhou, Fujian, 350001, China.
Purpose: Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant genetic disease associated with mutations in the GATA3 gene, which encodes GATA3 that plays essential roles in vertebrate development. This study aimed to identify and report the pathogenic mutation in GATA3 in a Chinese family diagnosed with HDR syndrome and determine its functional impacts in vivo.
Subjects And Methods: The clinical features of a 25-year-old male patient with HDR syndrome and his parents were collected.
HDR syndrome presented with nephrotic syndrome in a Chinese boy: A case report.
World J Clin Cases
September 2024
Department of Pediatrics, Peking University First Hospital Ningxia Women and Children's Hospital, Yinchuan 750001, Ningxia Hui Autonomous Region, China.
Article Synopsis
- HDR syndrome is a rare genetic disorder characterized by hypoparathyroidism, deafness, and renal disease, with a case report of a Chinese infant who exhibited early-onset nephrotic syndrome, a condition not commonly associated with HDR syndrome.
- The infant, a 9-month-old boy, showed symptoms like proteinuria, growth retardation, and sensorineural deafness, with his medical history indicating significant developmental delays and congenital issues.
- Genetic testing revealed a specific variant in the gene, suggesting a potential link between this variant and the development of nephrotic syndrome in infants with HDR syndrome.
A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.
Endocr J
November 2024
Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Iwate 028-3695, Japan.
HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism (H), deafness (D), and renal dysplasia (R) caused by genetic variants of the GATA3 gene. We present the case of a 38-year-old Japanese man with HDR syndrome who exhibited hypoparathyroidism, sensorineural deafness, renal dysfunction, severe symptomatic hypocalcemia with Chvostek's and Trousseau's signs, and QT prolongation on electrocardiography. He had a family history of deafness and hypocalcemia.
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