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Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father
Author(s) -
Smyk M.,
Obersztyn E.,
Nowakowska B.,
Bocian E.,
Cheung S.W.,
Mazurczak T.,
Stankiewicz P.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31631
Subject(s) - germline mosaicism , haploinsufficiency , sox9 , somatic cell , germline mutation , germline , genetics , biology , sex reversal , mutation , gene , phenotype , gene expression
Haploinsufficiency of SOX9 , a master gene in chondrogenesis and testis development, leads to the semi‐lethal skeletal malformation syndrome campomelic dysplasia (CD), with or without XY sex reversal. We report on two children with CD and a phenotypically normal father, a carrier of a somatic mosaic SOX9 deletion. This is the first report of a mosaic deletion of SOX9 ; few familial CD cases with germline and somatic mutation mosaicism have been described. Our findings confirm the utility of aCGH and indicate that for a more accurate estimate of the recurrence risk for a completely penetrant autosomal dominant disorder, parental somatic mosaicism should be considered in healthy parents. © 2007 Wiley‐Liss, Inc.