First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Report
-
Mirsajjad MOUSAVI-ASL GERMEH CHESHMEH
,
Ali NAJIZADEH
,
Saied HOSSEINI-ASL
,
Hooshang ZAIMKOHAN
,
Roshanak JAZAYERI
Abstract
Congenital Nail abnormalities are rare ectodermal defects. Autosomal recessive nail dysplasia is much rarer. Recently it has been recognized as a condition resulting in nail dystrophy in the absence of other cutaneous or extracutaneous disorders. Few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with Non-Syndromic Congenital Nail Dysplasia. We report a family presenting, they lived in Namin a country of the Ardabil Province, northwestern Iran in 2016, for the first time in Iran in whom we identified mutations in FZD6 with abnormal nails formation.
1. Wilson NJ, Hansen CD, Azkur D, et al (2013). Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita. J Dermatol Sci, 70(1):58-60.
2. Frojmark AS, Schuster J, Sobol M, et al (2013) Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. Am J Hum Genet, 88(6):852-60.
3. Cui CY, Klar J, Georgii-Heming P, et al (2013). Frizzled6 deficiency disrupts the differentiation process of nail development. J Invest Dermatol, 133(8):1990-7.
4. De Marco P, Merello E, Rossi A, et al (2012). FZD6 is a novel gene for human neural tube defects. Hum Mutat, 33(2):384-90.
5. Khan S, Ansar M, Kamal Khan A, et al (2018). A Homozygous Missense Mutation in SLC25A16 is Associated with Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family. Br J Dermatol, 178(2): 556–558.
6. Kasparis C, Reid D, Wilson NJ, et al (2016). Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature. Clin Exp Der-matol, 41(8):884-9.
7. Raza SI, Muhammad N, Khan S, Ahmad W (2013). A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. Br J Dermatol, 168(2):422-5.
8. Naz G, Pasternack SM, Perrin C, et al (2012). FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. Br J Dermatol, 166(5):1088-94.
9. Kilander MB, Dahlstrom J, Schulte G (2014). Assessment of Frizzled 6 membrane mobility by FRAP supports G protein coupling and reveals WNT-Frizzled selectivity. Cell Signal, 26(9):1943-9.
10. Khan S, Basit S, Habib R, Kamal A, Muhammad N, Ahmad W (2015). Genetics of human isolated hereditary nail disorders. Br J Dermatol, 173(4):922-9.
11. Krebsova A, Hamm H, Karl S, Reis A, Hennies HC (2000) Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13. J Invest Dermatol, 115(4):664-7.
2. Frojmark AS, Schuster J, Sobol M, et al (2013) Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. Am J Hum Genet, 88(6):852-60.
3. Cui CY, Klar J, Georgii-Heming P, et al (2013). Frizzled6 deficiency disrupts the differentiation process of nail development. J Invest Dermatol, 133(8):1990-7.
4. De Marco P, Merello E, Rossi A, et al (2012). FZD6 is a novel gene for human neural tube defects. Hum Mutat, 33(2):384-90.
5. Khan S, Ansar M, Kamal Khan A, et al (2018). A Homozygous Missense Mutation in SLC25A16 is Associated with Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family. Br J Dermatol, 178(2): 556–558.
6. Kasparis C, Reid D, Wilson NJ, et al (2016). Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature. Clin Exp Der-matol, 41(8):884-9.
7. Raza SI, Muhammad N, Khan S, Ahmad W (2013). A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. Br J Dermatol, 168(2):422-5.
8. Naz G, Pasternack SM, Perrin C, et al (2012). FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. Br J Dermatol, 166(5):1088-94.
9. Kilander MB, Dahlstrom J, Schulte G (2014). Assessment of Frizzled 6 membrane mobility by FRAP supports G protein coupling and reveals WNT-Frizzled selectivity. Cell Signal, 26(9):1943-9.
10. Khan S, Basit S, Habib R, Kamal A, Muhammad N, Ahmad W (2015). Genetics of human isolated hereditary nail disorders. Br J Dermatol, 173(4):922-9.
11. Krebsova A, Hamm H, Karl S, Reis A, Hennies HC (2000) Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13. J Invest Dermatol, 115(4):664-7.
| Files | ||
| Issue | Vol 48 No 7 (2019) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/ijph.v48i7.2968 | |
| Keywords | ||
| Nail dysplasia FZD6 gene Autosomal recessive Iran | ||
| Rights and permissions | |
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
MOUSAVI-ASL GERMEH CHESHMEH M, NAJIZADEH A, HOSSEINI-ASL S, ZAIMKOHAN H, JAZAYERI R. First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Report. Iran J Public Health. 2019;48(7):1369-1374.
