Autozygosity Mapping by Genome-Wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous Hr Mutation in a Consanguineous Family With Universal Hereditary Hair Loss

Autozygosity Mapping by Genome-Wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous Hr Mutation in a Consanguineous Family With Universal Hereditary Hair Loss Publisher

Zeinali S^{1, 2} ; Youssefian L³ ; Vahidnezhad H¹ ; Saeidian AH^{3, 4} ; Sotoudeh S⁵ ; Bagherian H² ; Uitto J³

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1. Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
2. Kawsar Human Genetics Research Center, Tehran, Iran
3. Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, 19107, PA, United States
4. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
5. Department of Dermatology, Children's Medical Center, Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran

Source: International Journal of Dermatology and Venereology Published:2021

Abstract

Objective:Isolated hereditary hypotrichosis is caused by mutations in as many as 11 different genes. The conventional mutation detection strategy consists of sequencing of individual candidate genes separately, a time consuming and costly approach. In this study, we perform genome-wide single nucleotide polymorphism (SNP) array to identify candidate genes of hereditary hypotrichosis.Methods:A consanguineous family with two patients with hereditary hypotrichosis was enrolled, and autozygosity mapping by genome-wide SNP array was utilized to identify candidate genes.Results:Autozygosity mapping delineated runs of homozygosity, and alignment of the 11 genes identified the hairless (HR) gene as the candidate gene. Nucleotide sequencing revealed a novel homozygous mutation c.381delT, p.Ser127ArgfsTer40.Conclusion:This study illustrates how autozygosity mapping by a high-density SNP array streamlines mutation detection in heritable skin diseases. © 2021 Lippincott Williams and Wilkins. All rights reserved.

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Arya Sotoudeh (1)

Style	Citing Format
MLA	Zeinali S, et al.. "Autozygosity Mapping by Genome-Wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous Hr Mutation in a Consanguineous Family With Universal Hereditary Hair Loss." International Journal of Dermatology and Venereology, vol. 4, no. 2, 2021, pp. 82-85.
APA	Zeinali S, Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Bagherian H, Uitto J (2021). Autozygosity Mapping by Genome-Wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous Hr Mutation in a Consanguineous Family With Universal Hereditary Hair Loss. International Journal of Dermatology and Venereology, 4(2), 82-85.
Chicago	Zeinali S, Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Bagherian H, Uitto J. "Autozygosity Mapping by Genome-Wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous Hr Mutation in a Consanguineous Family With Universal Hereditary Hair Loss." International Journal of Dermatology and Venereology 4, no. 2 (2021): 82-85.
Harvard	Zeinali S et al. (2021) 'Autozygosity Mapping by Genome-Wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous Hr Mutation in a Consanguineous Family With Universal Hereditary Hair Loss', International Journal of Dermatology and Venereology, 4(2), pp. 82-85.
Vancouver	Zeinali S, Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Bagherian H, et al.. Autozygosity Mapping by Genome-Wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous Hr Mutation in a Consanguineous Family With Universal Hereditary Hair Loss. International Journal of Dermatology and Venereology. 2021;4(2):82-85.
BibTex	@article{ author = {Zeinali S and Youssefian L and Vahidnezhad H and Saeidian AH and Sotoudeh S and Bagherian H and Uitto J}, title = {Autozygosity Mapping by Genome-Wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous Hr Mutation in a Consanguineous Family With Universal Hereditary Hair Loss}, journal = {International Journal of Dermatology and Venereology}, volume = {4}, number = {2}, pages = {82-85}, year = {2021} }
RIS	TY - JOUR AU - Zeinali S AU - Youssefian L AU - Vahidnezhad H AU - Saeidian AH AU - Sotoudeh S AU - Bagherian H AU - Uitto J TI - Autozygosity Mapping by Genome-Wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous Hr Mutation in a Consanguineous Family With Universal Hereditary Hair Loss JO - International Journal of Dermatology and Venereology VL - 4 IS - 2 SP - 82 EP - 85 PY - 2021 ER -

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