Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages

Journal of Investigative Dermatology

Volumn 137, Issue 3, 2017, Pages 660-669

  Vahidnezhad, Hassan ^a,b   Youssefian, Leila ^a,c   Zeinali, Sirous ^b,d   Saeidian, Amir Hossein ^a   Sotoudeh, Soheila ^c   Mozafari, Nikoo ^e   Abiri, Maryam ^b,c,d   Kajbafzadeh, Abdol Mohammad ^f   Barzegar, Mohammadreza ^e   Ertel, Adam ^a   Fortina, Paolo ^a,g   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b PASTEUR INSTITUTE OF IRAN   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d Kawsar's Human Genetic Research Center   (Iran)

^e SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; COLLAGEN TYPE 7 A1; UNCLASSIFIED DRUG; COL7A1 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CONSANGUINEOUS MARRIAGE; CONSANGUINITY; CONTROLLED STUDY; DNA FLANKING REGION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPITOPE MAPPING; ETHNICITY; EXTENDED FAMILY; FOUNDER EFFECT; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; INDEL MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PRIORITY JOURNAL; SANGER SEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; ALLELE; COHORT ANALYSIS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETICS; GEOGRAPHY; HOMOZYGOTE; IRAN; MALE; MUTATION; PEDIGREE; PHENOTYPE;

ALLELES; COHORT STUDIES; COLLAGEN TYPE VII; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPITOPE MAPPING; FAMILY HEALTH; FEMALE; GEOGRAPHY; HAPLOTYPES; HOMOZYGOTE; HUMANS; IRAN; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 85013978261     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2016.10.023     Document Type: Article

References (33)

1. Bademci, G., Foster, J. 2nd, Mahdieh, N., Bonyadi, M., Duman, D., Cengiz, F.B., et al. Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. Genet Med 18 (2016), 364–371.
2. Brittingham, R., Uitto, J., Fertala, A., High-affinity binding of the NC1 domain of collagen VII to laminin 5 and collagen IV. Biochem Biophys Res Commun 343 (2006), 692–699.
3. Cao, Y.Y., Qu, Y.J., Song, F., Zhang, T., Bai, J.L., Jin, Y.W., et al. Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq panel and Ion Torrent PGM sequencing. Mol Genet Metab 113 (2014), 261–266.
4. Chen, M., Marinkovich, M.P., Jones, J.C., O'Toole, E.A., Li, Y.Y., Woodley, D.T., NC1 domain of type VII collagen binds to the beta3 chain of laminin 5 via a unique subdomain within the fibronectin-like repeats. J Invest Dermatol 112 (1999), 177–183.
5. Christiano, A.M., McGrath, J.A., Tan, K.C., Uitto, J., Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet 58 (1996), 671–681.
6. Chung, H.J., Uitto, J., Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa. Dermatol Clin 28 (2010), 93–105.
7. Fine, J.D., Bruckner-Tuderman, L., Eady, R.A., Bauer, E.A., Bauer, J.W., Has, C., et al. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. J Am Acad Dermatol 70 (2014), 1103–1126.
8. Fine, J.D., Mellerio, J.E., Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol 61 (2009), 367–384.
9. Hamamy, H., Antonarakis, S.E., Cavalli-Sforza, L.L., Temtamy, S., Romeo, G., Kate, L.P., et al. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med 13 (2011), 841–847.
10. Hammersen, J., Has, C., Naumann-Bartsch, N., Stachel, D., Kiritsi, D., Soder, S., et al. Genotype, clinical course, and therapeutic decison making in 76 infants with severe generalized junctional epidermolysis bullosa. J Invest Dermatol 136:11 (2016), 2150–2157.
11. Hovnanian, A., Hilal, L., Blanchet-Bardon, C., de Prost, Y., Christiano, A.M., Uitto, J., et al. Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa. Am J Hum Genet 55 (1994), 289–296.
12. Mellerio, J.E., Robertson, S.J., Bernardis, C., Diem, A., Fine, J.D., George, R., et al. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines. Br J Dermatol 174 (2016), 56–67.
13. Millat, G., Chanavat, V., Rousson, R., Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the rapid detection of genetic variations in long QT syndrome. Mol Diagn Ther 18 (2014), 533–539.
14. Millat, G., Chanavat, V., Rousson, R., Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies. Clin Chim Acta 433 (2014), 266–271.
15. Modell, B., Darr, A., Science and society: genetic counselling and customary consanguineous marriage. Nat Rev Genet 3 (2002), 225–229.
16. Montaudie, H., Chiaverini, C., Sbidian, E., Charlesworth, A., Lacour, J.P., Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases. Orphanet J Rare Dis, 11, 2016, 117.
17. Pfendner, E., Uitto, J., Fine, J.D., Epidermolysis bullosa carrier frequencies in the US population. J Invest Dermatol 116 (2001), 483–484.
18. Pfendner, E.G., Nakano, A., Pulkkinen, L., Christiano, A.M., Uitto, J., Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn 23 (2003), 447–456.
19. Rehm, H.L., Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet 14 (2013), 295–300.
20. Rezaei, N., Pourpak, Z., Aghamohammadi, A., Farhoudi, A., Movahedi, M., Gharagozlou, M., et al. Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. Am J Reprod Immunol 56 (2006), 145–151.
21. Saadat, M., Ansari-Lari, M., Farhud, D.D., Consanguineous marriage in Iran. Ann Hum Biol 31 (2004), 263–269.
22. South, A.P., Li, Q., Uitto, J., Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum. J Invest Dermatol 135 (2015), 937–940.
23. Takeichi, T., Nanda, A., Liu, L., Salam, A., Campbell, P., Fong, K., et al. Impact of next generation sequencing on diagnostics in a genetic skin disease clinic. Exp Dermatol 22 (2013), 825–831.
24. Tamai, K., Uitto, J., Stem cell therapy for epidermolysis bullosa—does it work?. J Invest Dermatol 136:11 (2016), 2119–2121.
25. Uitto J, Atanasova VS, Jiang Q, South AP. Precision medicine for heritable skin diseases—the paradigm of epidermolysis bullosa. J Invest Dermatol, in press.
26. Uitto, J., Bruckner-Tuderman, L., Christiano, A.M., McGrath, J.A., Has, C., South, A.P., et al. Progress toward treatment and cure of epidermolysis bullosa: Summary of the DEBRA International Research Symposium EB2015. J Invest Dermatol 136 (2016), 352–358.
27. Uitto, J., Christiano, A.M., McLean, W.H.I., McGrath, J.A., Novel molecular therapies for heritable skin disorders. J Invest Dermatol 132 (2012), 820–828.
28. Uitto, J., Has, C., Vahidnezhad, H., Youssefian, L., Bruckner-Tuderman, L., Molecular pathology of the basement membrane zone in heritable blistering diseases: The paradigm of epidermolysis bullosa. [e-pub ahead of print] Matrix Biol, 2016 http://dx.doi.org/10.1016/j.matbio.2016.07.009.
29. Vahidnezhad, H., Youssefian, L., Saeidian, A.H., Mozafari, N., Barzegar, M.R., Sotoudeh, S., et al. KRT5 and KRT14 mutations in epidermolysis bullosa simplex with phenotypic heterogeneity, and evidence of semi-dominant inheritance in a multiplex family. J Invest Dermatol 136 (2016), 1897–1901.
30. Yang, Y., Muzny, D.M., Reid, J.G., Bainbridge, M.N., Willis, A., Ward, P.A., et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 369 (2013), 1502–1511.
31. Yang, Y., Muzny, D.M., Xia, F., Niu, Z., Person, R., Ding, Y., et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312 (2014), 1870–1879.
32. Youssoufian, H., Antonarakis, S.E., Bell, W., Griffin, A.M., Kazazian, H.H. Jr., Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Am J Hum Genet 42 (1988), 718–725.
33. Youssefian, L., Vahidnezhad, H., Barzegar, M., Li, Q., Sotoudeh, S., Yazdanfar, A., et al. The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. J Invest Dermatol 135 (2015), 1447–1450.