Genetic analysis of a child with acrodysostosis type 2.

VernacularTitle:一例2型肢端发育不全症的临床特点及基因变异分析
Author: Li WANG ¹ ; Qun LI ; Xin LI ; Yirou WANG ; Juan LI ; Jian WANG ; Xiumin WANG
Author Information

1. Shanghai Children's Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China. wangxiumin1019@126.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2020;37(10):1128-1131
CountryChina
Language:Chinese
Abstract: OBJECTIVE:To analyze the clinical characteristics and genetic variation in a child with acrodysostosis type 2.
METHODS:The child has undergone history taking and physical examination. Genome DNA was extracted from peripheral blood samples from him and his parents. High-throughput sequencing was carried out. The result was verified by Sanger sequencing.
RESULTS:The 8-year-old boy presented with midface hypoplasia, hypertelorism, prominent nasal bridge, small and upturned nostrils, broad thumb and great toes, and brachydactyly of remaining fingers and toes. Genetic testing revealed that the child has carried a heterozygous c.1813T>C (p.Tyr605His) missense mutation of the PDE4D gene. The same mutation was not found in either parent and was unreported previously.
CONCLUSION:The child was diagnosed with acrodysostosis type 2 due to the novel mutation of the PDE4D gene.