Mutations of the thyroid peroxidase gene in Chinese siblings with congenital goitrous hypothyroidism

Ma, Shao-Gang; Wu, Xiaojuan; Liu, Hong; Xu, Wei; He, Lei

doi:10.1590/s0004-27302012000900003

Cited by 7 publications

(1 citation statement)

References 17 publications

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“…In addition, The most prevailing causes of goitrous congenital hypothyroidism (GCH) are TPO defects. Until now, more than 90 inactivating mutations in the TPO gene have been reported 2101112. These mutations establish a heterogeneous spectrum of GCH, with an autosomal recessive mode of inheritance.…”

Section: Introductionmentioning

confidence: 99%

Compound Heterozygous Mutations in theDUOX2/DUOXA2Genes Cause Congenital Hypothyroidism

Zheng

Shao²,

Guo³

et al. 2017

Yonsei Med J

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The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence of heterozygous mutations in the DUOX2 and DUOXA2 genes. The two sisters with GCH were diagnosed with CH at neonatal screening and were enrolled in this study. The DUOX2, DUOXA2, and thyroid peroxidase (TPO) genes were considered for genetic defects screening. Family members of the patients and normal controls were also enrolled and evaluated. The two girls harbored compound heterozygous mutations, including a new mutation of c.2654G>T (p.R885L) in the maternal DUOX2 allele and c.738C>G (p.Y246X) in the paternal DUOXA2 allele, that has been previously reported. The germline mutations from the families were consistent with an autosomal recessive inheritance pattern. No mutations in the TPO gene and the controls were observed.

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Section: Introductionmentioning

confidence: 99%