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| [PMID]: | 28455095 |
| [Au] Autor: | Wang F; Liu C; Jia X; Liu X; Xu Y; Yan S; Jia X; Huang Z; Liu S; Gu M |
| [Ad] Endereço: | Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China; Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China. |
| [Ti] Título: | Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. |
| [So] Source: | Clin Chim Acta;470:36-41, 2017 Jul. | | [Is] ISSN: | 1873-3492 |
| [Cp] País de publicação: | Netherlands |
| [La] Idioma: | eng |
| [Ab] Resumo: | BACKGROUND: The abnormal expression of certain transcription factors (NKX2.1, FOXE1, NKX2.5, and PAX8) and thyroid stimulating hormone receptor (TSHR) genes has been associated with athyreosis, which is a form of thyroid dysgenesis (TD). We aimed to identify candidate gene mutations in CH patients with athyreosis and to establish the genotype-phenotype correlations in a Chinese population. METHODS: The exons and flanking sequences of NKX2.1, FOXE1, NKX2.5, PAX8, and TSHR were screened by next-generation sequencing and further confirmed by direct Sanger sequencing. The mutation frequencies were calculated and compared against databases. The relationship between genotype and phenotype was also determined. RESULTS: Seven variants were detected in TSHR-p.P52T, p.G132R, p.M164K, p.R450H, p.C700E, p.A522V, and p.R528S. The p. G132R, p. M164K and p. R528S variants were first identified in public databases. Five variants (p.G44D, p.G360V, p.R401Q, p.L418I, and p.E453Q) were found in NKX2.1 and one variant (p.P243T) was detected in FOXE1. In addition, one variant (p.N291I) was found in NKX2.5 and two variants (p.A355V and c.-26G>A) were detected in PAX8. CONCLUSIONS: Our study indicated that TSHR mutations have phenotypic variability and has further expanded the mutation spectrum of TSHR. We also revealed that the rate of NKX2.1, FOXE1, NKX2.5, and PAX8 mutations were low in patients with CH and athyreosis, in contrast to the higher rate of TSHR mutations. |
| [Mh] Termos MeSH primário: |
Grupo com Ancestrais do Continente Asiático/genética
Hipotireoidismo Congênito/genética
Análise Mutacional de DNA
Sequenciamento de Nucleotídeos em Larga Escala
Receptores da Tireotropina/genética
Disgenesia da Tireoide/genética
Fatores de Transcrição/genética
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| [Mh] Termos MeSH secundário: |
Sequência de Bases
Criança
Pré-Escolar
Feminino
Fatores de Transcrição Forkhead/genética
Genótipo
Proteína Homeobox Nkx-2.5/genética
Seres Humanos
Masculino
Fator de Transcrição PAX8/genética
Fenótipo
Glândula Tireoide/metabolismo
Fator Nuclear 1 de Tireoide/genética
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| [Pt] Tipo de publicação: | CASE REPORTS; JOURNAL ARTICLE |
[Nm] Nome de substância:
| 0 (FOXE1 protein, human); 0 (Forkhead Transcription Factors); 0 (Homeobox Protein Nkx-2.5); 0 (NKX2-1 protein, human); 0 (NKX2-5 protein, human); 0 (PAX8 Transcription Factor); 0 (PAX8 protein, human); 0 (Receptors, Thyrotropin); 0 (Thyroid Nuclear Factor 1); 0 (Transcription Factors) |
| [Em] Mês de entrada: | 1801 |
| [Cu] Atualização por classe: | 180108 |
[Lr] Data última revisão:
| 180108 |
| [Sb] Subgrupo de revista: | IM |
| [Da] Data de entrada para processamento: | 170430 |
| [St] Status: | MEDLINE |
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