کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8316583 | 1538703 | 2011 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family](/preview/png/8316583.png)
چکیده انگلیسی
A three-generation Han Chinese family was found with complex digital anomalies including various types of polydactyly and syndactyly of fingers and toes. Some extra digits are composed only of soft tissues while others are complete fingers or toes, making this complex case different from previously reported pedigrees. The digital disease shows an autosomal dominant inheritance model. To locate the causative gene, whole-genome SNP analysis was performed using Illumina 370Â K CNV-Quad chips followed by linkage analysis with a self-developed algorithm Haplo2Ped (http://bighapmap.big.ac.cn/software.html). Three candidate regions with the highest signals (LOD scores 2.1070) were identified. In one region from 33,904,914Â bp to 45,529,271Â bp in chromosome 7, GLI3 was selected for further analysis. PCR sequencing and subsequent clone sequencing revealed a single nucleotide deletion (c.2884delG) in exon 14. This frame shift mutation generated a truncated protein with 40 non-endogenous amino acids in its C-terminal (p.Asp962MetfsX41). GLI3 was previously reported to associate with Greig Cephalopolysyndactyly Syndrome, Pallister-Hall Syndrome, and a few cases of preaxial and postaxial polydactylies. We report for the first time a novel mutation of GLI3 causing various digital abnormalities, including multi symptoms as both polydactyly and syndactyly among affected members but no other body maldevelopments (non-syndromic).
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinica Chimica Acta - Volume 412, Issues 11â12, 12 May 2011, Pages 1012-1017
Journal: Clinica Chimica Acta - Volume 412, Issues 11â12, 12 May 2011, Pages 1012-1017
نویسندگان
Feng Cheng, Xin Ke, Ming Lv, Fan Zhang, Chaohua Li, Xianglong Zhang, Yinan Zhang, Xiangjun Zhao, Xingwu Wang, Bo Liu, Jinxiang Han, Yan Li, Changqing Zeng, Sheng Li,