Genome-Wide Single Nucleotide Polymorphism-Based Autozygosity Mapping Facilitates Identification of Mutations in Consanguineous Families With Epidermolysis Bullosa

Genome-Wide Single Nucleotide Polymorphism-Based Autozygosity Mapping Facilitates Identification of Mutations in Consanguineous Families With Epidermolysis Bullosa Publisher Pubmed

Vahidnezhad H^{1, 2} ; Youssefian L^{1, 3} ; Saeidian AH¹ ; Zeinali S^{2, 4} ; Touati A^{1, 5} ; Abiri M^{4, 6} ; Sotoudeh S⁷ ; Norouzzadeh S^{4, 8} ; Amirinezhad N^{4, 8} ; Mozafari N⁹ ; Daneshpazhooh M¹⁰ ; Mahmoudi H¹⁰ ; Hamid M² ; Bradfield JP¹¹ Show All Authors

Vahidnezhad H^{1, 2}
Youssefian L^{1, 3}
Saeidian AH¹
Zeinali S^{2, 4}
Touati A^{1, 5}
Abiri M^{4, 6}
Sotoudeh S⁷
Norouzzadeh S^{4, 8}
Amirinezhad N^{4, 8}
Mozafari N⁹
Daneshpazhooh M¹⁰
Mahmoudi H¹⁰
Hamid M²
Bradfield JP¹¹
Kim CE¹¹
Hakonarson H^{11, 12}
Uitto J¹

Show Affiliations

1. Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, United States
2. Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran
3. Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
4. Kawsar Human Genetics Research Center, Tehran, Iran
5. Drexel University College of Medicine, Philadelphia, PA, United States
6. Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
7. Department of Dermatology, Children's Medical Center, Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
8. Department of Biology, Islamic Azad University, Arsanjan Branch, Arsanjan, Iran
9. Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
10. Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran
11. Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, United States
12. Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States

Source: Experimental Dermatology Published:2019

Abstract

Autozygosity mapping (AM) is a technique utilised for mapping homozygous autosomal recessive (AR) traits and facilitation of genetic diagnosis. We investigated the utility of AM for the molecular diagnosis of heterogeneous AR disorders, using epidermolysis bullosa (EB) as a paradigm. We applied this technique to a cohort of 46 distinct EB families using both short tandem repeat (STR) and genome-wide single nucleotide polymorphism (SNP) array-based AM to guide targeted Sanger sequencing of EB candidate genes. Initially, 39 of the 46 cases were diagnosed with homozygous mutations using this method. Independently, 26 cases, including the seven initially unresolved cases, were analysed with an EB-targeted next-generation sequencing (NGS) panel. NGS identified mutations in five additional cases, initially undiagnosed due to the presence of compound heterozygosity, deep intronic mutations or runs of homozygosity below the set threshold of 2 Mb, for a total yield of 44 of 46 cases (95.7%) diagnosed genetically. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

Style	Citing Format
MLA	Vahidnezhad H, et al.. "Genome-Wide Single Nucleotide Polymorphism-Based Autozygosity Mapping Facilitates Identification of Mutations in Consanguineous Families With Epidermolysis Bullosa." Experimental Dermatology, vol. 28, no. 10, 2019, pp. 1118-1121.
APA	Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Touati A, Abiri M, Sotoudeh S, Norouzzadeh S, Amirinezhad N, Mozafari N, Daneshpazhooh M, Mahmoudi H, Hamid M, Bradfield JP, Kim CE, Hakonarson H, Uitto J (2019). Genome-Wide Single Nucleotide Polymorphism-Based Autozygosity Mapping Facilitates Identification of Mutations in Consanguineous Families With Epidermolysis Bullosa. Experimental Dermatology, 28(10), 1118-1121.
Chicago	Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Touati A, Abiri M, Sotoudeh S, et al.. "Genome-Wide Single Nucleotide Polymorphism-Based Autozygosity Mapping Facilitates Identification of Mutations in Consanguineous Families With Epidermolysis Bullosa." Experimental Dermatology 28, no. 10 (2019): 1118-1121.
Harvard	Vahidnezhad H et al. (2019) 'Genome-Wide Single Nucleotide Polymorphism-Based Autozygosity Mapping Facilitates Identification of Mutations in Consanguineous Families With Epidermolysis Bullosa', Experimental Dermatology, 28(10), pp. 1118-1121.
Vancouver	Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Touati A, Abiri M, et al.. Genome-Wide Single Nucleotide Polymorphism-Based Autozygosity Mapping Facilitates Identification of Mutations in Consanguineous Families With Epidermolysis Bullosa. Experimental Dermatology. 2019;28(10):1118-1121.
BibTex	@article{ author = {Vahidnezhad H and Youssefian L and Saeidian AH and Zeinali S and Touati A and Abiri M and Sotoudeh S and Norouzzadeh S and Amirinezhad N and Mozafari N and Daneshpazhooh M and Mahmoudi H and Hamid M and Bradfield JP and Kim CE and Hakonarson H and Uitto J}, title = {Genome-Wide Single Nucleotide Polymorphism-Based Autozygosity Mapping Facilitates Identification of Mutations in Consanguineous Families With Epidermolysis Bullosa}, journal = {Experimental Dermatology}, volume = {28}, number = {10}, pages = {1118-1121}, year = {2019} }
RIS	TY - JOUR AU - Vahidnezhad H AU - Youssefian L AU - Saeidian AH AU - Zeinali S AU - Touati A AU - Abiri M AU - Sotoudeh S AU - Norouzzadeh S AU - Amirinezhad N AU - Mozafari N AU - Daneshpazhooh M AU - Mahmoudi H AU - Hamid M AU - Bradfield JP AU - Kim CE AU - Hakonarson H AU - Uitto J TI - Genome-Wide Single Nucleotide Polymorphism-Based Autozygosity Mapping Facilitates Identification of Mutations in Consanguineous Families With Epidermolysis Bullosa JO - Experimental Dermatology VL - 28 IS - 10 SP - 1118 EP - 1121 PY - 2019 ER -

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