TCOF1 mutation database:: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature

被引:31
作者
Splendore, A
Fanganiello, RD
Masotti, C
Morganti, LSC
Passos-Bueno, MR
机构
[1] Univ Sao Paulo, Dept Biol, Inst Biociencias, Ctr Estudos Genoma Humano, BR-05508900 Sao Paulo, Brazil
[2] Inst Nacl Canc, Div Genet, Rio De Janeiro, Brazil
关键词
TCOF1; Treacher Collins syndrome; database; mutation nomenclature;
D O I
10.1002/humu.20159
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Recently, a novel exon was described in TCOF1 that, although alternatively spliced, is included in the major protein isoform. In addition, most published mutations in this gene do not conform to current mutation nomenclature guidelines. Given these observations, we developed an online database of TCOF1 mutations in which all the reported mutations are renamed according to standard recommendations and in reference to the genomic and novel cDNA reference sequences (www.genoma.ib.usp.br/TCOF1_database). We also report in this work: 1) results of the first screening for large deletions in TCOF1 by Southern blot in patients without mutation detected by direct sequencing; 2) the identification of the first pathogenic mutation in the newly described exon 6A; and 3) statistical analysis of pathogenic mutations and polymorphism distribution throughout the gene. (c) 2005 Wiley-Liss, Inc.
引用
收藏
页码:429 / 434
页数:6
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