کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2817239 | 1159976 | 2013 | 5 صفحه PDF | دانلود رایگان |

• Identifying a novel COMP mutation (c.1511G>A) in pseudoachondroplasia.
• Confirming the mutation is not a SNP.
• Summarizing all the mutations of COMP have identified in pseudoachondroplasia.
A 2.75-year-old Chinese boy presented with typical clinical features of pseudoachondroplasia, including disproportionate short-limb short stature, brachydactyly, genu varus and waddling gait. Radiologically, tubular bones were short with widened metaphyses, irregular and small epiphyses; anterior tonguing or beaking of vertebral bodies were characteristic. DNA sequencing analysis of the COMP gene revealed a heterozygous mutation (c.1511G>A, p.Cys504Tyr) in the patient but his parents were unaffected without this genetic change. The missense mutation (c.1511G>A) was not found in 100 healthy controls and has not been reported previously. Our findings expand the spectrum of known mutations in COMP leading to pseudoachondroplasia.
Journal: Gene - Volume 522, Issue 1, 10 June 2013, Pages 102–106