Department of Clinical Genetics, Nottingham City Hospital, Nottingham, UK; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Am J Med Genet A. 2013 Oct;161A(10):2588-93. doi: 10.1002/ajmg.a.36094. Epub 2013 Aug 5.
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.
碳水化合物磺基转移酶 3（CHST3；也称为软骨素-6-磺基转移酶）缺乏与严重的软骨发育不良和进行性脊柱受累表型相关。最近的报告表明，受影响的个体最初表现为新生儿多发性关节脱位。我们描述了一名 14 岁的索马里患者和她 3 岁的同母异父的半兄弟，他们携带新的纯合 CHST3 突变。该先证者在 5 岁半时因身材矮小和膝内翻就诊。她的病程特点是脊柱畸形迅速进展和大关节挛缩。她的半兄弟出生时双侧膝关节脱位和马蹄内翻足。这个索马里家庭的报告说明了这种罕见疾病表型表达的家族内变异性。© 2013 Wiley Periodicals, Inc.
