کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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5907393 | 1160024 | 2012 | 4 صفحه PDF | دانلود رایگان |
Human synpolydactyly (SPD), belonging to syndactyly (SD) II, is an inherited autosomal-dominant limb malformation characterized by SD of finger 3 or 4 or toe 4 or 5, usually with digit duplication. Previous studies have demonstrated that homeobox protein D13 (HOXD13) is responsible for this Mendelian disorder. In this paper, we report on a family with SPD - 7 members show typical SPD malformations. We used PCR and Sanger sequencing of DNA from peripheral blood samples and found an 8-Ala expansion in exon 1 of HOXD13 by mutation detection; this variant was absent in unaffected members and in 50 unaffected non-related subjects. This study further confirmed the correlation between SPD and alanine expansion in HOXD13.
⺠Confirmed HOXD13 mutation and synpolydactyly. ⺠Found an eight-alanine expansion in HOXD13. ⺠This mutation leads to obviously variable expressivities.
Journal: Gene - Volume 499, Issue 1, 10 May 2012, Pages 48-51