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Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital

Zhe Feng Yuan1, Hua Qing Mao, Yan Fei Luo

  • 1Department of Child Health Care, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China.

Endocrine Journal
|April 2, 2008
PubMed

Insights

Genetic analysis in Chinese children with congenital hypothyroidism (CH) identified novel thyrotropin receptor (TSHR) gene variants. Mutations in the TSHR and thyroid transcription factor-1 (TTF-1) genes were found to be rare in this population.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Congenital hypothyroidism (CH) is a common endocrine disorder in neonates.
  • Genetic factors play a crucial role in the etiology of CH.
  • The thyrotropin receptor (TSHR) and thyroid transcription factor-1 (TTF-1) genes are key regulators of thyroid hormone synthesis.

Purpose of the Study:

  • To investigate mutations and variants in the TSHR and TTF-1 genes in Chinese children diagnosed with CH.
  • To determine the frequency of these genetic alterations in the studied population.

Main Methods:

  • Molecular analysis involving polymerase chain reaction (PCR) amplification and sequencing of the coding regions of TSHR and TTF-1 genes.
  • Comparison of genetic sequences between CH patients and a control group of normal children.

Main Results:

  • Three heterozygous variants (Pro52Thr, Gly245Ser, Val689Gly) in the TSHR gene were identified in Chinese children with CH.
  • Polymorphisms were observed in TSHR gene exon 10 (C/G at nucleotide 2181) and exon 7 (T/C at nucleotide 561).
  • No mutations or polymorphisms were detected in the coding region of the TTF-1 gene in CH patients or controls.

Conclusions:

  • Novel heterozygous variants of the TSHR gene were identified in Chinese children with CH.
  • TSHR gene polymorphisms exist in this population.
  • Mutations/variants in TSHR and TTF-1 genes appear to be infrequent causes of CH in Chinese children.

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