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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Divergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3

Fig. 1

Co-segregation of the mutations and key clinical characteristics. a A heterozygous mutation (c.1761C > G (p.Pro588Ala)) and a complex deletion insertion mutation (c.1765_1766delinsGCCCGfs86*) in exon 9 of the HNF-1α gene were identified by direct sequencing (upper panel: control, middle patient forward strand, below: patient reverse strand). Horizontal arrows indicate direction of sequencing; vertical arrows indicate sequence alterations. b Co-segregation of the HNF-1α mutations in the family. The genetic status, age of onset of diabetes, current therapy and date of birth are indicated. Numbers indicate the index patient and the brother. (Black symbol: early onset diabetes phenotype; grey symbol: late onset type 2 diabetes NM: heterozygous mutation present; NN: no mutation; INS: insulin; OHA: oral hypoglycemic agents; SU: sulfonylurea). In detail, at time of investigation the medication was as follows: index patient (insulin, angiotensin-converting-enzyme inhibitors), brother (glinide), daughter (metformin), father (insulin, statin, glibenclamide), and mother (metformin, glibenclamide, statin, angiotensin-converting-enzyme inhibitors)

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