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- LIPPINCOTT WILLIAMS & WILKINS
- The National Academy of Sciences
- The American Society of Human Genetics
- American Society for Investigative Pathology
- American Society of Human Genetics
- Oxford University Press
- Public Library of Science
- Landes Bioscience
- Oxford Univ Press
- Universidade de Tubinga
- NATURE PUBLISHING GROUP; NEW YORK
- Blackwell Publishing Ltd
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‣ Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
Fonte: LIPPINCOTT WILLIAMS & WILKINS
Publicador: LIPPINCOTT WILLIAMS & WILKINS
Tipo: Artigo de Revista Científica
Português
Relevância na Pesquisa
596.27023%
#cleft lip and palate#mutation#haploinsufficiency#dominant negative#cryptic splice site#CpG#NONSYNDROMIC CLEFT-LIP#2 MISSENSE MUTATIONS#IRF6 GENE VARIANTS#PALATE#IDENTIFICATION
Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further...
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