title: Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.
abstract: Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotranferase) has been associated with a phenotype of severe chondrodysplasia and progressive spinal involvement. Recent reports indicate that affected individuals initially present with neonatal multiple joint dislocations. We describe a 14-year-old Somali patient and her 3-year-old maternal half-brother with novel homozygous CHST3 mutations. The proband presented at the age 5½ years with short stature and genua valga. Her clinical course was characterized by rapid progression of spinal deformities and large joint contractures. Her half-brother presented at birth with bilateral knee dislocation and talipes equinovarus. This report of a Somali family with CHST3-related chondrodysplasia illustrates the intrafamilial variability in phenotypic expression of this rare disorder. © 2013 Wiley Periodicals, Inc.
authors.affiliation: Department of Clinical Genetics, Nottingham City Hospital, Nottingham, UK; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: George A
authors.initials: GA
authors.lastname: Tanteles
authors.forename: Abhijit
authors.initials: A
authors.lastname: Dixit
authors.forename: Sunil
authors.initials: S
authors.lastname: Dhar
authors.forename: Mohnish
authors.initials: M
authors.lastname: Suri
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D035781:Siblings; D012998:Somalia; D015238:Sulfotransferases / Q000235:genetics*; D000097811:Carbohydrate Sulfotransferases
chemical_list: D015238:Sulfotransferases; D000097811:Carbohydrate Sulfotransferases
keywords: CHST3 type; Omani type; autosomal recessive Larsen syndrome; chondrodysplasia with congenital joint dislocations; intrafamilial variability of expression; spondyloepiphyseal dysplasia