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Whole‐exome sequencing expands the phenotype of Hunter syndrome
Author(s) -
Nikkel S.M.,
Huang L.,
Lachman R.,
Beaulieu C.L.,
Schwartzentruber J.,
Majewski J.,
Geraghty M.T.,
Boycott K.M.
Publication year - 2014
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/cge.12236
Subject(s) - exome sequencing , phenotype , short stature , genetics , exome , medicine , clinical phenotype , biology , bioinformatics , pediatrics , gene
Whole‐exome sequencing ( WES ) has proven its utility in finding novel genes associated with rare conditions and its usefulness is being further demonstrated in expanding the phenotypes of well known diseases. We present here a family with a previously undiagnosed X‐linked condition characterized by progressive restriction of joint range of motion, prominence of the supraorbital ridge, audiology issues and hernias. They had an average stature, normal occipitofrontal circumference and intelligence, absence of dysostosis multiplex and otherwise good health. A diagnosis of Hunter syndrome was determined using WES and further supported by biochemical investigations. The phenotype of this family does not correspond to either the severe or attenuated clinical subtypes of Hunter syndrome. As further atypical families are reported, this classification will need to be modified. Our findings highlight the utility of WES in expanding the recognized phenotypic spectrum of known syndromes.