ArticleThyroid : official journal of the American Thyroid Association2018
A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism.
Article in Thyroid : official journal of the American Thyroid Association, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 14 citations in OpenAlex.
- From bench to bedside: the evolving role of iodine in thyroid cancer management.Nature reviews. Endocrinology · 2026Review
- Transcriptome Profile of Thyroid Glands in Bile Duct Ligation Mouse Model.International journal of molecular sciences · 2022Article
- Construction of a Signature Model to Predict the Radioactive Iodine Response of Papillary Thyroid Cancer.Frontiers in endocrinology · 2022Article
- The Iodide Transport Defect-Causing Y348D Mutation in the NaThyroid : official journal of the American Thyroid Association · 2021Article
- Article
- Establishing paediatric endocrinology services in a limited resource country: experience from Sudan.Sudanese journal of paediatrics · 2021Article
- Serum TSH levels are associated with postoperative recurrence and lymph node metastasis of papillary thyroid carcinoma.American journal of translational research · 2021Article
- Novel Compound Heterozygous Pathogenic Mutations ofFrontiers in endocrinology · 2021Article
- The paradoxical lean phenotype of hypothyroid mice is marked by increased adaptive thermogenesis in the skeletal muscle.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.The Journal of clinical endocrinology and metabolism · 2020Article
- Implications of NaJournal of the Endocrine Society · 2019Review
- Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ.Hormone research in paediatrics · 2019Article
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4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Thyroid hormone synthesis requires the presence of iodide. The sodium-iodide symporter (NIS) is a glycoprotein that mediates the active uptake of iodide from the blood stream into the thyroid grand. NIS defects due to SLC5A5 gene mutations are known to cause congenital hypothyroidism (CH). The proposita is a 28-year-old female whose origin is North Sudan where neonatal screening for CH is not available. She presented with severe constipation and a goiter at the age of 40 days. Laboratory testing confirmed CH, and she was started on levothyroxine. Presumably due to the delayed treatment, the patient developed mental retardation. Her younger sister presented with a goiter, tongue protrusion, and umbilical hernia, and the youngest brother was also diagnosed with CH based on a thyrotropin level >100 μIU/mL at the age of 22 days and 8 days, respectively. The two siblings were treated with levothyroxine and had normal development. Their consanguineous parents had no history of thyroid disorders. Whole-exome sequencing was performed on the proposita. This identified a novel homozygous missense mutation in the SLC5A5 gene-c.1042T>G, p.Y348D-which was subsequently confirmed by Sanger sequencing. All affected children were homozygous for the same mutation, and their unaffected mother was heterozygous. The NIS protein is composed of 13 transmembrane segments (TMS), an extracellular amino-terminus, and an intracellular carboxy-terminus. The mutation is located in the TMS IX, which has the most β-OH group-containing amino acids (serine and threonine), which is implicated in Na
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