A novel IGSF 1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF 1 deficiency syndrome
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Summary: Objective: Loss‐of‐function mutations in IGSF 1 result in X‐linked central congenital hypothyroidism (Ce CH), occurring in isolation or associated with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and a minority of heterozygous females are also affected. We identified and characterized a novel IGSF 1 mutation and investigated its associated phenotypes in a large Irish kindred. Design, Patients and Measurements: A novel hemizygous IGSF 1 mutation was identified by direct sequencing in two brothers with Ce CH, and its functional consequences were characterized in vitro. Genotype‐phenotype correlations were investigated in the wider kindred. Results: The mutant IGSF 1 protein (c.2318T > C, p.L773P) exhibited decreased plasma membrane expression in vitro due to impaired trafficking from the endoplasmic reticulum. Ten hemizygous males and 11 heterozygous females exhibited characteristic endocrine deficits. Ireland operates a TSH‐based CH screening programme, which does not detect Ce CH; therefore, genetic ascertainment preceded biochemical diagnosis of moderate CH in five of seven boys as well as their 75‐year‐old grandfather. Clinical features potentially attributable to hypothyroidism were variable; normal free T3 (FT 3) and low/low normal reverse T3 (rT 3) concentrations suggested that preferential deiodination of FT 4 to FT 3 may help maintain tissue euthyroidism in some individuals. However, neonatal jaundice, delayed speech or growth, and obesity were observed in seven subjects in whom diagnosis was delayed. Conclusions: As observed with other IGSF 1 mutations, p.L773P results in variably penetrant IGSF 1 deficiency syndrome. Our observations emphasize the need for multi‐generation genetic ascertainment in affected families, especially where TSH‐based CH screening programmes may fail to detect Ce CH at birth.
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Serum rT3 typically rises as T3 falls during nonthyroidal illness; consequently, measurement of rT3 adds little to this diagnosis unless nonthyroidal illness is confounding the diagnosis of central hypothyroidism.
“Serum rT3 typically rises as T3 falls during nonthyroidal illness; consequently, measurement of rT3 adds little to this diagnosis unless nonthyroidal illness is confounding the diagnosis of central hypothyroidism.”
From Thyroid Stimulating Hormone and Thyroid Hormones (Triiodothyronine and Thyroxine): An American Thyroid Association-Commissioned Review of Current Clinical and Laboratory Status (2023) · cites this paper as [89]
The Results (Thyroid function) and Discussion report normal FT3 with low or low-normal rT3 in people with IGSF1-related central hypothyroidism. Searches for nonthyroidal illness and the diagnostic value of rT3 found no passage addressing the claimed pattern during nonthyroidal illness or the proposed exception for diagnosing central hypothyroidism. The reported IGSF1 findings concern a different condition and do not establish or contradict the claim. (LLM, conf=0.76)
Experimental — accuracy not yet measuredImpaired bioactivity of circulating TSH has been prevalently demonstrated by in vitro bioassays, but can also be supported in vivo by impaired increment of free T4 and/or T3 following TSH response upon TRH stimulation test.
“The impaired bioactivity of circulating TSH has been prevalently demonstrated by in vitro bioassays (15), but this phenomenon can also be supported in vivo by the impaired increment of circulating free T4 and/or T3 following the TSH response upon TRH stimulation test (18, 19).”
From The diagnosis and management of central hypothyroidism in 2018 (2019) · cites this paper as [19]
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- Authors
- Roche, E. F., McGowan, A., Koulouri, O., Turgeon, M., Nicholas, A. K., Heffernan, E., El‐Khairi, R., Abid, N., Lyons, G., Halsall, D., Bonomi, M., Persani, L., Dattani, M. T., Gurnell, M., Bernard, D. J., & Schoenmakers, N.
- Affiliations
- Trinity College Dublin (IE)
- University of Cambridge (GB)
- McGill University (CA)
- Royal Belfast Hospital for Sick Children (GB)
- Wellcome/MRC Cambridge Stem Cell Institute (GB)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- University of Milan (IT)
- University College London (GB)
- Corresponding author
- Schoenmakers, Nadia
- ORCID
- Venue
- Clinical Endocrinology
- Publisher
- Wiley
- Published
- 2018-10
- Volume
- 89
- Issue
- 6
- Pages
- 813-823
- ISSN
- 0300-0664 (ISSN-L)
- 1365-2265
- PMC
- PMC6282842
- OpenAlex
- W2885272002
- Cited by
- 29
- References
- 36
- Citations by year
- 2025: 2 · 2024: 5 · 2023: 3 · 2022: 3 · 2021: 1 · 2020: 11 · 2019: 4
- FWCI
- 3.08
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Clinical Endocrinology (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, cc-by)
- Funders
- Wellcome Trust (100574/Z/12/Z, 100585/Z/12/Z)
- National Institute for Health Research
- Canadian Institutes of Health Research (MOP‐133557)
- Natural Sciences and Engineering Research Council of Canada (2015‐05178)
- Ministero della Salute (RF‐2010‐2309484)
- Medical Research Council (MRC_MC_UU_12012/5)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- IGSF1, novel mutations, hemizygous mutation, family screening, genotype-phenotype correlation, penetrance, reverse T3, delayed diagnosis
- MeSH terms
- Adolescent, Adult, Aged, Child, Child, Preschool, Congenital Hypothyroidism, Female, Humans, Immunoglobulins, Infant, Ireland, Male, Membrane Proteins, Middle Aged, Mutation, Thyroxine, Triiodothyronine, Young Adult
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