[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].
This study aimed to report the clinical characteristics and COMP gene mutation of a family with pseudoachondroplasia (PSACH), a relatively rare spinal and epiphyseal dysplasia that is inherited as an autosomal dominant trait. Clinical information on a 5-year-2-month-old PSACH child and his parents was collected and analyzed. Diagnosis was confirmed by PCR amplification and direct sequencing of all the 19 exons and their flanking sequences of COMP gene, and the mutation was further ascertained by cloning analysis of exon 10. The child presented with short and stubby fingers, bow leg, short limb dwarfism and metaphysic broadening in long bone as well as lumbar lordosis. A mutation c.1048_1116del (p.Asn350_Asp372del) in exon 10, inherited from his father who did not demonstrate any phenotypic feature of PSACH, was detected in the child. PSACH was diagnosed definitively by means of COMP mutation analysis, on the basis of the child's clinical and imaging features. The non-penetrance phenomenon of COMP mutation was described for the first time in PSACH.
Department of Endocrinology and Metabolism, First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510632, China. songyuanzong@vip.tom.com.
Chun-Ting
CT
Lu
Li
L
Guo
Zhan-Hui
ZH
Zahng
Wei-Xia
WX
Lin
Yuan-Zong
YZ
Song
Lie
L
Feng
D000130:Achondroplasia / Q000235:genetics*; D064236:Cartilage Oligomeric Matrix Protein / Q000235:genetics*; D002675:Child, Preschool; D003001:Cloning, Molecular; D006801:Humans; D008297:Male; D009154:Mutation
D064236:Cartilage Oligomeric Matrix Protein; C577553:TSP5 protein, human