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A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3
Author(s) -
Pierpont John W.,
Jacques Duane St.,
Seaver Laurie H.,
Erickson Robert P.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb03946.x
Subject(s) - proband , waardenburg syndrome , megacolon , medicine , dentinogenesis imperfecta , locus (genetics) , genetics , biology , anatomy , gene , mutation , surgery , phenotype , osteogenesis imperfecta
An unusual family with Waardenburg syndrome type 1 (WSI), cleft lip (palate), and Hirschsprung disease is not linked to the PAX 3 gene since there is an obligate crossover which has occurred between PAX 3 DNA markers and the disorder in this family. This family may also have anticipation of the WSI traits as the proband's grandmother is nonpenetrani, his mother has dystopia canthorum, and severe cleft lip (palate), while the proband has dystopia canthorum, severe cleft lip (palate), and Hirschsprung disease. Thus, a locus other than PAX 3 is implicated in this Waardenburg‐like syndrome with Hirschsprung disease and cleft lip (palate).