Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene
ObjectiveThis study aims to summarize the diagnostic and treatment experience of a case of Hypoparathyroidism-Sensorineural Hearing Loss-Renal Dysplasia (HDR) syndrome caused by a heterozygous mutation in the GATA3 gene.MethodsThe diagnostic and treatment process of the patient with HDR syndrome in...
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Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2025.1502545/full |
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| author | Haibin Chen Haibin Chen Yudi Zhang Xueyao Yang Xueyao Yang Yongzhen Li |
| author_facet | Haibin Chen Haibin Chen Yudi Zhang Xueyao Yang Xueyao Yang Yongzhen Li |
| author_sort | Haibin Chen |
| collection | DOAJ |
| description | ObjectiveThis study aims to summarize the diagnostic and treatment experience of a case of Hypoparathyroidism-Sensorineural Hearing Loss-Renal Dysplasia (HDR) syndrome caused by a heterozygous mutation in the GATA3 gene.MethodsThe diagnostic and treatment process of the patient with HDR syndrome in our hospital was compared and analyzed.ResultsA 9-month-old male infant with a history of poor physical condition and increased susceptibility to infections. At the age of 2 months, ptosis was observed in the left eye. Laboratory tests revealed decreased serum calcium, elevated blood phosphorus levels, and reduced parathyroid hormone (PTH) levels, indicating the presence of “Hypoparathyroidism”. Genetic testing identified a heterozygous mutation in the GATA3 gene in the patient, specifically a nucleotide change from G to T at position 800 (c.800G>T). This mutation resulted in the substitution of cysteine with phenylalanine at amino acid position 267 (p.C267F). The missense mutation was determined to be both pathogenic and novel.ConclusionEarly genetic testing should be prioritized, and regular monitoring of kidney development and hearing status is essential. The reported case, featuring the novel GATA3 gene mutation c.800G>T (p.C267F), contributes to the enrichment of the genetic database. |
| format | Article |
| id | doaj-art-e1c87c5f304441a38a535fff6bd9a6af |
| institution | Kabale University |
| issn | 1664-2392 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj-art-e1c87c5f304441a38a535fff6bd9a6af2025-02-12T05:14:59ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-02-011610.3389/fendo.2025.15025451502545Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 geneHaibin Chen0Haibin Chen1Yudi Zhang2Xueyao Yang3Xueyao Yang4Yongzhen Li5Department of Endocrinology, Changsha Hospital of Hunan Normal University, Changsha, Hunan, ChinaDepartment of Endocrinology, The Fourth Hospital of Changsha, Changsha, Hunan, ChinaDepartment of Pediatrics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, ChinaDepartment of Endocrinology, Changsha Hospital of Hunan Normal University, Changsha, Hunan, ChinaDepartment of Endocrinology, The Fourth Hospital of Changsha, Changsha, Hunan, ChinaDepartment of Pediatrics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, ChinaObjectiveThis study aims to summarize the diagnostic and treatment experience of a case of Hypoparathyroidism-Sensorineural Hearing Loss-Renal Dysplasia (HDR) syndrome caused by a heterozygous mutation in the GATA3 gene.MethodsThe diagnostic and treatment process of the patient with HDR syndrome in our hospital was compared and analyzed.ResultsA 9-month-old male infant with a history of poor physical condition and increased susceptibility to infections. At the age of 2 months, ptosis was observed in the left eye. Laboratory tests revealed decreased serum calcium, elevated blood phosphorus levels, and reduced parathyroid hormone (PTH) levels, indicating the presence of “Hypoparathyroidism”. Genetic testing identified a heterozygous mutation in the GATA3 gene in the patient, specifically a nucleotide change from G to T at position 800 (c.800G>T). This mutation resulted in the substitution of cysteine with phenylalanine at amino acid position 267 (p.C267F). The missense mutation was determined to be both pathogenic and novel.ConclusionEarly genetic testing should be prioritized, and regular monitoring of kidney development and hearing status is essential. The reported case, featuring the novel GATA3 gene mutation c.800G>T (p.C267F), contributes to the enrichment of the genetic database.https://www.frontiersin.org/articles/10.3389/fendo.2025.1502545/fullHDR syndromeGATA3 geneGATA3 mutationnovel mutationpediatric |
| spellingShingle | Haibin Chen Haibin Chen Yudi Zhang Xueyao Yang Xueyao Yang Yongzhen Li Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene Frontiers in Endocrinology HDR syndrome GATA3 gene GATA3 mutation novel mutation pediatric |
| title | Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene |
| title_full | Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene |
| title_fullStr | Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene |
| title_full_unstemmed | Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene |
| title_short | Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene |
| title_sort | case report hypoparathyroidism sensorineural hearing loss renal dysplasia without febrile seizures a novel mutation in the gata3 gene |
| topic | HDR syndrome GATA3 gene GATA3 mutation novel mutation pediatric |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2025.1502545/full |
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