title: Whole-exome sequencing expands the phenotype of Hunter syndrome.
abstract: 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.
authors.affiliation: Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; University of Ottawa, Ottawa, ON, Canada.
authors.forename: S M
authors.initials: SM
authors.lastname: Nikkel
authors.forename: L
authors.initials: L
authors.lastname: Huang
authors.forename: R
authors.initials: R
authors.lastname: Lachman
authors.forename: C L
authors.initials: CL
authors.lastname: Beaulieu
authors.forename: J
authors.initials: J
authors.lastname: Schwartzentruber
authors.forename: J
authors.initials: J
authors.lastname: Majewski
authors.forename: M T
authors.initials: MT
authors.lastname: Geraghty
authors.forename: K M
authors.initials: KM
authors.lastname: Boycott
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D059472:Exome / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D016532:Mucopolysaccharidosis II / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA; D012886:Skull / Q000000981:diagnostic imaging
keywords: Hunter syndrome; attenuated; dysostosis multiplex; mucopolysaccharidosis type II; whole-exome sequencing