Clinical manifestation and gene analysis of a family with pseudoachondroplasia
10.3760/cma.j.cn101070-20190731-00696
- VernacularTitle:假性软骨发育不全一家系临床表现及基因分析
- Author:
Jianying DUAN
1
;
Jin WANG
;
Yinhong ZHANG
;
Fan LIU
;
Shiyan CAI
;
Yiping SHEN
;
Li LI
Author Information
1. 云南省第一人民医院儿科，昆明 650000
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(14):1110-1112
- CountryChina
- Language:Chinese
-
Abstract:
Clinical manifestations and genes of a case from a family with pseudoachondroplasia caused by COMP gene mutation treated in the Department of Pediatrics of the First People′s Hospital of Yunnan Province were retrospectively analyzed.The male patient aged 3 years and 3 months old had a history of slow growth for 1 year.Physical examinations showed that the patient′s height: 87.5 cm (less than -3 SD), 55.0 cm on top, 32.5 cm on bottom, mild O-leg, Nervous system physical examination suggested normal muscle strength of lower limbs and low muscle tone.Genetic examination revealed that the heterozygous gene variation of exon 11 of the COMP gene was chr19: 18897437 A >g [hg19], nm_000095.2, c.1159T >c, p.CY3 387 Arg, namely the transformation of cysteine to arginine at position 1159 of the translation product protein.Genetic testing is an important basis for the diagnosis of pseudoachondroplasia.It can avoid mistreatment, so as not to affect the predicted adult height of children.
