Clinical and Functional Characteristics of a Novel KLF11 Cys354Phe Variant Involved in Maturity-Onset Diabetes of the Young

Figure 1

Partial sequence diagram of KLF11 and the pedigree of the studied family members. (a) Partial sequence diagram of KLF11. A heterozygous c.1061G > T transition mutation, causing the substitution of cysteine by phenylalanine at codon 354 is shown using an arrow (GenBank accession number: NM_003597.4). (b) The pedigree of the study family. Women are represented using circles and men, using squares. The black symbols indicate individuals with diabetes. The grey symbol indicates individuals with prediabetes. The proband is denoted by an arrow. The horizontal lines indicate individuals who underwent molecular analysis. The p.Cys354Phe variant of KLF11 was identified in I-2, II-5, and III-4. The N symbols denote the people that carry the WT gene, and the M symbols denote the people that carry the Cys354Phe variant.

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