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A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST
Author(s) -
Panzer K.M.,
Lachman R.,
Modaff P.,
Pauli R.M.
Publication year - 2008
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.32543
Subject(s) - dysplasia , phenotype , locus (genetics) , medicine , genetics , biology , pathology , gene
We describe a child whose original clinical and radiologic manifestations led to a diagnosis of Desbuquois dysplasia. Subsequent development of features including cervical kyphosis and cystic ears caused us to reconsider the original diagnosis. The new complement of features in this patient fell in a range between Desbuquois dysplasia and diastrophic dysplasia. Molecular testing showed that she is a compound heterozygote for mutations in the diastrophic dysplasia sulfate transporter gene ( DTDST ). This finding confirms that there is locus heterogeneity in apparent Desbuquois dysplasia. It also expands the phenotypic spectrum of disorders caused by mutations in DTDST . © 2008 Wiley‐Liss, Inc.