鉴定与家族性并指多指畸形相关的涉及SLC25A21基因的新型14q13.3缺失。
Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly.
作者信息
Meyertholen K, Ravnan J B, Matalon R
机构信息
School of Medicine, University of Texas Medical Branch, Galveston, Tex., USA.
Signature Genomics, Spokane, Wash., USA.
出版信息
Mol Syndromol. 2012 Jun;3(1):25-9. doi: 10.1159/000339177. Epub 2012 Jun 13.
Abstract
Synpolydactyly is a relatively rare malformation. Recently, we came across a male infant with a familial synpolydactyly of the hands and feet. As most familial synpolydactyly syndromes have not been linked to any specific mutations, we felt further investigation was warranted. Using microarray and fluorescent in situ hybridization analysis, we identified a novel mutation of the SLC25A21 gene on chromosome 14.
摘要
多指（趾）并指（趾）畸形是一种相对罕见的畸形。最近，我们遇到了一名患有手足家族性多指（趾）并指（趾）畸形的男婴。由于大多数家族性多指（趾）并指（趾）畸形综合征尚未与任何特定突变相关联，我们认为有必要进行进一步研究。通过微阵列和荧光原位杂交分析，我们在14号染色体上鉴定出SLC25A21基因的一种新突变。
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