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Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review
- Source :
- Genes, Vol 12, Iss 748, p 748 (2021), Genes
- Publication Year :
- 2021
- Publisher :
- MDPI AG, 2021.
-
Abstract
- Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is characterized by cutaneous syndactyly of the toes and fingers and abnormalities of the hair and teeth, variably associated with nail dystrophy and palmoplantar keratoderma (PPK). EDSS1 is caused by biallelic mutations in the NECTIN4 gene, encoding the adherens junction component nectin-4. Nine EDSS1 cases have been described to date. We report a 5.5-year-old female child affected with EDSS1 due to the novel homozygous frameshift mutation c.1150delC (p.Gln384ArgfsTer7) in the NECTIN4 gene. The patient presents brittle scalp hair, sparse eyebrows and eyelashes, widely spaced conical teeth and dental agenesis, as well as toenail dystrophy and mild PPK. She has minimal proximal syndactyly limited to toes 2–3, which makes the phenotype of our patient peculiar as the overt involvement of both fingers and toes is typical of EDSS1. All previously described mutations are located in the nectin-4 extracellular portion, whereas p.Gln384ArgfsTer7 occurs within the cytoplasmic domain of the protein. This mutation is predicted to affect the interaction with afadin, suggesting that impaired afadin activation is sufficient to determine EDSS1. Our case, which represents the first report of a NECTIN4 mutation with toe-only minimal syndactyly, expands the phenotypic and molecular spectrum of EDSS1.
- Subjects :
- 0301 basic medicine
Pathology
medicine.medical_specialty
Ectodermal dysplasia
Case Report
QH426-470
030105 genetics & heredity
Cutaneous syndactyly
hypotrichosis
Frameshift mutation
03 medical and health sciences
Keratoderma, Palmoplantar
Genetics
medicine
Humans
Syndactyly
Child
Frameshift Mutation
Genetics (clinical)
enamel hypoplasia
business.industry
trichoscopy
syndactyly
Dystrophy
Syndrome
Toes
palmoplantar keratoderma
medicine.disease
ectodermal dysplasia
Hypodontia
030104 developmental biology
Palmoplantar keratoderma
nectin-4
hypodontia
Hypotrichosis
Female
business
Cell Adhesion Molecules
Subjects
Details
- ISSN :
- 20734425
- Volume :
- 12
- Database :
- OpenAIRE
- Journal :
- Genes
- Accession number :
- edsair.doi.dedup.....a24d355b804ebb4a4e9ee49e352e6275
- Full Text :
- https://doi.org/10.3390/genes12050748