Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly

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• 作者：Qian Xin^a ; ¹ ; Lin Li^b ; ¹ ; Jiangxia Li^a ; Rongfang Qiu^a ; Chenhong Guo^a ; Yaoqin Gong^a ; Qiji Liu^a ; ^{liuqiji@sdu.edu.cn}
• 关键词：OMIM ; Online Mendelian Inheritance in Man ; SPD ; synpolydactyly ; SD ; syndactyly ; HOX ; homeobox ; HOXD13 ; homeobox D13 ; SNP ; single-nucleotide polymorphism ; dNTP ; deoxy-ribonucleoside triphosphate ; Ala ; alanine ; Leu ; leucine ; Gly ; glycine
• 刊名：Gene
• 出版年：2012
• 出版时间：10 May, 2012
• 年：2012
• 卷：499
• 期：1
• 页码：48-51
• 全文大小：663 K

文摘

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.