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Start Over Author "Yuan-Ping Shi" Topic congenital hypothyroidism
3 results on '"Yuan-Ping Shi"'

1. Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

Author

Chang-Run Zhang, Yuan-Ping Shi, Cao-Xu Zhang, Feng Sun, Wen-Jiao Zhu, Rui-Jia Zhang, Ya Fang, Qian-Yue Zhang, Chen-Yan Yan, Ying-Xia Ying, Shuang-Xia Zhao, and Huai-Dong Song

Subjects
congenital hypothyroidism, next-generation sequencing, slc26a4, cell location, ion transport, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

INTRODUCTION: Defects in the human solute carrier family 26 member 4 (SLC26A4) gene are reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify SLC26A4 mutations in Chinese patients with CH and analyze the function of the mutations. METHODS: Patients with primary CH were screened for 21 CH candidate genes mutations by targeted next-generation sequencing. All the exons and exon-intron boundaries of SLC26A4 were identified and analyzed. The function of six missense mutation in SLC26A4 were further investigated in vitro. RESULTS: Among 273 patients with CH, seven distinct SLC26A4 heterozygous mutations (p.S49R, p.I363L, p.R409H, p.T485M, p.D661E, p.H723R, c.919-2A>G) were identified in 10 patients (3.66%, 10/273). In vitro experiments showed that mutation p.I363L, p.R409H, p.H723R affect the membrane location and ion transport of SLC26A4, while p.S49R did not. Mutation p.T485M and p.D661E only affected ion transport, but had no effect on the membrane location. DISCUSSION AND CONCLUSION: The prevalence of SLC26A4 mutations was 3.66% in Chinese patients with CH. Five mutations (p.I363L, p.R409H, p.T485M, p.D661E and p.H723R) impaired the membrane location or ion transport function of SLC26A4, suggesting important roles for Ile363, Arg409, Thr485, Asp661, and His723 residues in SLC26A4 function. As all variants identified were heterozygous, the pathogenesis of these patients cannot be explained, and the pathogenesis of these patients needs further study

Published
2022
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2. Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

Author

Wenjiao Zhu, Cao-Xu Zhang, Rui-Jia Zhang, Ya Fang, Feng Sun, Qian-Yue Zhang, Chang-Run Zhang, Huai-Dong Song, Ying-Xia Ying, Chen-Yan Yan, Shuang-Xia Zhao, and Yuan-Ping Shi

Subjects
Genetics, Candidate gene, Mutation, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, medicine.disease_cause, Congenital hypothyroidism, Solute carrier family, Pathogenesis, Exon, Endocrinology, Pediatrics, Perinatology and Child Health, otorhinolaryngologic diseases, medicine, Missense mutation, business, Gene
Abstract

Objective Defects in the human solute carrier family 26 member 4 (SLC26A4) gene are reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify SLC26A4 mutations in Chinese patients with CH and analyze the function of the mutations. Methods 273 patients with primary CH were screened for 21 CH candidate genes mutations by targeted next-generation sequencing. All the exons and exon-intron boundaries of SLC26A4 were found and analyzed. The function of 6 missense mutation in SLC26A4 were further investigated in vitro. Results Among 273 patients with CH, 7 distinct SLC26A4 heterozygous mutations (p.S49R, p.I363L, p.R409H, p.T485M, p.D661E, p.H723R, c.919-2A>G) were identified in 10 patients (3.66%, 10/273). In vitro experiments showed that mutation p.I363L, p.R409H,p.H723R affect the membrane location and ion transport of SLC26A4, ,while p.S49R did not.Mutation p.T485M and p.D661E only affect the ion transport, but has no effect on the membrane location. Conclusion Our study indicated that the prevalence of SLC26A4 mutations was 3.66% in the Chinese patients with CH. Five mutations (p.I363L, p.R409H, p.T485M, p.D661E and p.H723R) impaired the membrane location or ion transport function of SLC26A4，which revealed important role of the Ile363,Arg409, Thr485, Asp661, His723 residues in function of SLC26A4. Because these mutations are heterozygous mutations, the pathogenesis of these patients cannot be explained, and the pathogenesis of these patients needs further study.

Published
2022

3. Mutation Screening and Functional Study of

Author

Chang-Run, Zhang, Yuan-Ping, Shi, Cao-Xu, Zhang, Feng, Sun, Wen-Jiao, Zhu, Rui-Jia, Zhang, Ya, Fang, Qian-Yue, Zhang, Chen-Yan, Yan, Ying-Xia, Ying, Shuang-Xia, Zhao, and Huai-Dong, Song

Subjects
China, Heterozygote, Asian People, Sulfate Transporters, Hearing Loss, Sensorineural, Mutation, Congenital Hypothyroidism, Humans
Abstract

Defects in the human solute carrier family 26 member 4 (Patients with primary CH were screened for 21 CH candidate genes mutations by targeted next-generation sequencing. All the exons and exon-intron boundaries ofAmong 273 patients with CH, seven distinctThe prevalence of

Published
2021

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