Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients
| Autor: | Robert J. Desnick, Brenden Chen, Franck Boralevi, Beom Hee Lee, Fanny Morice-Picard |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Heterozygote Pathology medicine.medical_specialty Ectodermal dysplasia Focal facial dermal dysplasia DNA Mutational Analysis Compound heterozygosity medicine.disease_cause 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Ectodermal Dysplasia Genetics medicine Humans Missense mutation Allele Alleles Cytochrome P450 Family 26 Genetic Association Studies Genetics (clinical) Mutation business.industry Genetic heterogeneity Focal Facial Dermal Dysplasias Infant medicine.disease Phenotype 030104 developmental biology Amino Acid Substitution business |
| Zdroj: | Journal of Human Genetics. 63:257-261 |
| ISSN: | 1435-232X 1434-5161 |
| DOI: | 10.1038/s10038-017-0375-x |
| Popis: | The focal facial dermal dysplasias (FFDDs) are a group of rare inherited developmental disorders characterized by congenital scar-like atrophic lesions in the bitemporal (FFDD1, 2, and 3) or preauricular (FFDD4) areas. FFDD4 is an autosomal-recessive trait characterized by preauricular skin defects without additional dysmorphic findings. Previously, only two CYP26C1 mutations in four unrelated patients with FFDD4 were reported. Here, we report two additional unrelated FFDD4 patients with four CYP26C1 mutations including three novel lesions: a missense mutation, c.230G>C (p.Arg77Pro), and two splice-site mutations, c.1191+1G>T (IVS5(+1)G>T) and c.1191+2insT (IVS5(+2)insT). In silico analyses predicted all three mutations as pathogenic. Compound heterozygosity was validated through parental studies. These results provide further evidence that CYP26C1 mutations are the molecular genetic basis of FFDD4. Identification of additional cases by dermatologists, pediatricians, and medical geneticists will lead to further understanding of the clinical spectrum of FFDD4 and define its molecular genetic heterogeneity. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink