Abstract
Objective To determine the genetic basis of maturity-onset diabetes of the young in a Chinese pedigree. Methods A 32 years old female patient was noticed that there were two generations of the family with diabetes. The pathogenic gene in the proband was identified by target area capture deep sequencing, and then was verified and screened the genetic mutation in the proband and other family members by Sanger sequencing. Results A new heterozygous frameshift mutation in hepatocyte nuclear factor-1α(HFN-1α) located in the exon 6 (c.1130-1131insC; p. V380Cfs*39) was identified. The mutation was co-segregated with diabetes. Conclusion A novel HNF-1α genetic mutation in a Chinese pedigree with MODY3 is found. Key words: Maturity-onset diabetes of the young; Frameshift mutation; Hepatocyte nuclear factor-1α
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