Clinical utility gene card for: Vici Syndrome.
Clinical utility gene card for: Vici Syndrome.
复制标题
临床实用基因卡：Vici 综合征。
DOI：
10.1038/ejhg.2013.142
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Cullup T
中科院分区：
文献类型：
--
作者：
Cullup T
1.5 Mutational spectrum Mutations in EPG5 are principally null mutations, most commonly comprising premature truncations, small insertions and deletions, and variants affecting the canonical splice sites. 1 Missense mutations are less common but have been identified in a small number of families. To date, large deletions and duplications have not been tested for; however, given that the majority of cases have point mutations in keeping with expected inheritance patterns, this mutation class is not predicted to represent a frequent causative mechanism; to date, only a single case has been shown to harbour one pathogenic allele in the absence of any other potential causal variants (unpublished observation). Among the 24 cases of EPG5-related Vici syndrome screened in our laboratory to date, 38 variants have been detected that have been classed as neutral polymorphisms; identification of heterozygous alleles enables elimination of heterozygous deletions at these loci, but on an individual patient basis, significant proportions of the analyzed region remain uninformative.
