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KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family 

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Presentation on theme: "KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family "— Presentation transcript:

1 KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family  Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Nikoo Mozafari, Mohammadreza Barzegar, Soheila Sotoudeh, Maryam Daneshpazhooh, Anna Isaian, Sirous Zeinali, Jouni Uitto  Journal of Investigative Dermatology  Volume 136, Issue 9, Pages (September 2016) DOI: /j.jid Copyright © 2016 The Authors Terms and Conditions

2 Figure 1 Pedigrees of epidermolysis bullosa simplex patients with mutations in KRT5 and KRT14. The mutation detection was performed by PCR amplification of all exons and approximately 50 base pairs of flanking intronic sequences of KRT5 and KRT14, followed by bidirectional Sanger sequencing (primer sequences available upon request from the corresponding author). In (a–c) families 2, 3, and 11 and (h–k) 1, 4, 7, and 9 (d,f,g), a heterozygous missense mutation, consistent with autosomal dominant model of inheritance, was detected. In family 10 (e), an 18-base pair in-frame deletion was detected. In families 5, 6, and 8, homozygous premature termination codon-causing mutations, either nonsense or deletion mutations, were detected, and the clinically unaffected parents were heterozygous carriers, consistent with autosomal recessive inheritance. (h) In family 9, three of the affected individuals (blue symbols) had generalized, relatively severe spontaneous blistering, and the remaining affected individuals (gray symbols) showed localized blistering tendency on the palms and soles only after exposure to trauma or heat. Segregation analysis showed that the three more severely affected individuals were homozygous for the mutation (C/C), whereas the patients affected with milder, localized disease were heterozygous (T/C); a clinically unaffected individual was homozygous T/T. These observations are consistent with semidominant inheritance. (a–e) Among the mutations, those in families 2, 3, 6, 10, and 11 are previously unreported, to our knowledge. A, adenine; C, cytosine; G, guanine; T, thymine. Journal of Investigative Dermatology  , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions

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