Mutation screening in 18 Caucasian families suggest the existence of other MODY genes
Mutation screening in 18 Caucasian families suggest the existence of other MODY genes
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DOI：
10.1007/s001250051025
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发表时间：
1998-09-01
期刊：
影响因子：
8.2
通讯作者：
Froguel, P
中科院分区：
文献类型：
--
作者：
Chèvre, JC;Hani, EH;Froguel, P
Maturity-onset diabetes of the young (MODY) is a heterogeneous subtype of non-insulin-dependent diabetes mellitus characterised by early onset, autosomal dominant inheritance and a primary defect in insulin secretion. To date five MODY genes have been identified: hepatocyte nuclear factor-4 alpha (HNF-4 alpha/MODY1/TCF14) on chromosome 20 q, glucokinase (GCK/MODY2) on chromosome 7p, hepatocyte nuclear factor-1 alpha (HNF-1 alpha/MODY3/TCF1) on chromosome 12q, insulin promoter factor-1 (IPF1/MODY4) on chromosome 13q and hepatocyte nuclear factor-1 beta (HNF-1 beta/MODY5/TCF2) on chromosome 17cen-q. We have screened the HNF-4 alpha:, HNF-1 alpha and HNF-1 beta genes in members of 18 MODY kindreds who tested negative for glucokinase mutations. Five missense (G31D, R159W, A161T, R200W, R271W), one substitution at the splice donor site of intron 5 (IVS5nt + 2T --> A) and one deletion mutation (P379fsdelT) were found in the HNF-1 alpha gene, but no MODY-associated mutations were found in the HNF-4 alpha and HNF-1 beta genes. Of 67 French MODY families that we have now studied, 42 (63%) have mutations in the glucokinase gene, 14 (21%) have mutations in the HNF-1 alpha gene, and 11 (16%) have no mutations in the HNF-4 alpha, IPF1 and HNF-1 beta genes. Eleven families do not have mutations in the five known MODY genes suggesting that there is at least one additionnal locus that can cause MODY.
