Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study Article Swipe
Roberto Sirica
,
Alessandro Ottaiano
,
Daniele De Brasi
,
Stephen W. Marcella
,
Fabio Acquaviva
,
Monica Ianniello
,
Nadia Petrillo
,
Valentina De Angelis
,
Raffaella Ruggiero
,
Rossana D’Angelo
,
Eloisa Evangelista
,
Antonio Fico
,
Giovanni Savarese
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.3390/genes16050519
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.3390/genes16050519
Background: Ectodermal dysplasia (ED) encompasses a heterogeneous group of genetic disorders affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands. Among these, variants in TSPEAR (Thrombospondin-type laminin G domain and epilepsy-associated repeats) have been implicated in autosomal recessive ED type 14 (OMIM 618180), predominantly manifesting with dental anomalies and hair dysplasia. However, the mutational spectrum of TSPEAR remains incompletely characterized. Methods: Two female siblings (ID#1 and ID#4) were clinically evaluated for ED. Genetic analysis, including next-generation sequencing (NGS) and Sanger validation, was conducted to identify TSPEAR variants. A segregation study confirmed inheritance patterns within the family. Results: Both affected siblings exhibited hallmark features of TSPEAR-related ED14, including oligodontia with dysmorphic, pointed maxillary central incisors. Hair thinning and cutaneous angiomas were predominant in ID#4. Genetic analysis identified two compound heterozygous variants in TSPEAR: c.543-1G>A, a splice-site variant likely to disrupt mRNA processing, and NM_144991.2:c.1251G>C(p.Gln417His), a missense variant with predicted deleterious effects. Segregation analysis confirmed maternal and paternal inheritance of the respective variants. A third sibling, ID#5, was identified as a heterozygous carrier without clinical manifestations. Conclusions: This study contributes to the expanding understanding of TSPEAR-related ED14 by providing novel genotype–phenotype correlations.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/genes16050519
- https://www.mdpi.com/2073-4425/16/5/519/pdf?version=1745900529
- OA Status
- gold
- Cited By
- 1
- References
- 11
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4409965884
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Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4409965884Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/genes16050519Digital Object Identifier
- Title
-
Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case StudyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-04-29Full publication date if available
- Authors
-
Roberto Sirica, Alessandro Ottaiano, Daniele De Brasi, Stephen W. Marcella, Fabio Acquaviva, Monica Ianniello, Nadia Petrillo, Valentina De Angelis, Raffaella Ruggiero, Rossana D’Angelo, Eloisa Evangelista, Antonio Fico, Giovanni SavareseList of authors in order
- Landing page
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https://doi.org/10.3390/genes16050519Publisher landing page
- PDF URL
-
https://www.mdpi.com/2073-4425/16/5/519/pdf?version=1745900529Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://www.mdpi.com/2073-4425/16/5/519/pdf?version=1745900529Direct OA link when available
- Concepts
-
Ectodermal dysplasia, Genetics, Broad spectrum, Type (biology), Biology, Medicine, Dermatology, Chemistry, Ecology, Combinatorial chemistryTop concepts (fields/topics) attached by OpenAlex
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1Total citation count in OpenAlex
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2025: 1Per-year citation counts (last 5 years)
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11Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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