کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2817239 1159976 2013 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A novel COMP mutation in a Chinese patient with pseudoachondroplasia
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
A novel COMP mutation in a Chinese patient with pseudoachondroplasia
چکیده انگلیسی


• 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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 522, Issue 1, 10 June 2013, Pages 102–106
نویسندگان
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