Fig. 1
From: Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
Extended pedigree of non-Finnish European patients identified in the discovery cohort. a Pedigree of family 1 that were identified with heterozygous RFX6 variant (NM_173560.3:c.875-T > G,p.Leu292Ter) from the discovery cohort. b Pedigree of family 2 from the discovery cohort with heterozygous RFX6 variant (NM_173560.3:c.1051-A > T, -p.Lys351Ter). Genotype is shown underneath each symbol; M and N denote mutant and wild-type alleles, respectively. Directly below the genotype is the age of diabetes onset in years, duration in years, BMI and treatment at study entry. Squares represent male family members, and circles represent female members. Black-filled symbols denote patients with diabetes. An arrow denotes the proband in the family. OHA, oral hypoglycaemic agents. *age at recruitment. One of the daughters of patient III.1 in family 2 had a history of gestational diabetes
