ArticleJournal of clinical research in pediatric endocrinology2016
A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism.
Article in Journal of clinical research in pediatric endocrinology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism.Frontiers in pediatrics · 2023Article
- Mutation Screening and Functional Study ofJournal of clinical research in pediatric endocrinology · 2022Article
- Identification of the causative gene of a transparent phenotype of juvenile red sea bream Pagrus major.Heredity · 2021Article
- Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review.Frontiers in genetics · 2021Article
- Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.Frontiers in endocrinology · 2021Article
- Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.Molecular medicine reports · 2020Article
- [Advances in genetic research of congenital hypothyroidism in China].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Review
- Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population.Frontiers in genetics · 2018Article
- Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis.International journal of endocrinology · 2018Article
- Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.The Journal of clinical endocrinology and metabolism · 2016Article
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Authors and funding
5 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
The coexistence of mutations in the dual oxidase maturation factor 2 (DUOXA2) and dual oxidase 2 (DUOX2) genes is rarely identified in congenital hypothyroidism (CH). This study reports a boy with CH due to a novel splice-site mutation in the DUOXA2 gene and a missense mutation in the DUOX2 gene. A four-year-old boy was diagnosed with CH at neonatal screening and was enrolled in this study. The DUOXA2, DUOX2, thyroid peroxidase (TPO), and thyrotropin receptor (TSHR) genes were considered for genetic defects screening. Genomic DNA was extracted from peripheral blood leukocytes, and Sanger sequencing was used to screen the mutations in the exon fragments. Family members of the patient and the controls were also enrolled and evaluated. The boy harbored compound heterozygous mutations including a novel splice-site mutation c.554+5C>T in the maternal DUOXA2 allele and c.2654G>A (p.R885Q) in the paternal DUOX2 allele. The germline mutations from his parents were consistent with an autosomal recessive inheritance pattern. No mutations in the TPO and TSHR genes were detected. A novel splice-site mutation c.554+5C>T in the DUOXA2 gene and a mutation p.R885Q in the DUOX2 gene were identified in a 4-year-old patient with goitrous CH.
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