A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.
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TGFBI (BIGH3) 基因外显子 13 内的新突变 (Leu569Arg) 会导致 I 型格子角膜营养不良。
DOI：
10.1016/s0002-9394(03)00541-5
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发表时间：
2003
影响因子：
4.2
通讯作者：
Margolis,ToddP
中科院分区：
文献类型：
--
作者：
Warren,JohnF;Abbott,RichardL;Yoon,MichaelK;Crawford,JBrooks;Spencer,WilliamH;Margolis,ToddP
目的描述一个美国晶格型角膜营养不良家族，该家族与TGFBI （BIGH3）基因的新突变Leu569Arg有关。DESIGNExperimental研究。方法从美国1例晶格型角膜营养不良家族的4名患病成员的颊上皮细胞中提取基因组DNA，采用PCR扩增和直接测序的方法对TGFBI基因的17个外显子进行鉴定。同时收集临床和组织学资料。结果本家族三代均确诊为格状角膜营养不良，为常染色体显性遗传。我们发现了一个与疾病表型相关的杂合点突变。单碱基对替换（T1753G）导致TGFBI基因外显子13的氨基酸替换（Leu569Arg）。结论：TGFBI基因569位的精氨酸取代亮氨酸导致晶格状角膜营养不良，其表型与其他遗传上不同的I型疾病相似。这是首次报道与TGFBI基因外显子13变化相关的疾病。
PURPOSETo describe an American family with lattice corneal dystrophy type I, which associates with a novel mutation, Leu569Arg, of the TGFBI (BIGH3) gene.DESIGNExperimental study.METHODSGenomic DNA was extracted from buccal epithelial cells of four affected members of an American family with lattice corneal dystrophy type I. All 17 exons of the TGFBI gene were evaluated by PCR amplification and direct sequencing. Clinical and histologic data were also collected.RESULTSThree generations of this family have been positively diagnosed with lattice corneal dystrophy, indicating autosomal dominant inheritance. We identified a heterozygous point mutation that associates with the disease phenotype. The single base-pair substitution (T1753G) results in an amino acid substitution (Leu569Arg) in exon 13 of the TGFBI gene.CONCLUSIONSSubstitution of arginine for leucine at position 569 of the TGFBI gene results in a form of lattice corneal dystrophy that is phenotypically similar to other genetically distinct forms of type I disease. This is the first report of disease correlated with changes in exon 13 of the TGFBI gene.
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