biostudies-literatureUnknown36(3)Boonen SE<h4>Objective</h4>Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care because it has impact on the phenotype and recurrence risk for families. We have determined the genotype, phenotype, and epigenotype of the first 10 families to alert health professionals to this newly described genetic subgroup of diabetes.<h4>Research design and methods</h4>The 10 families (14 homozygous/compound heterozygous individuals) with ZFP57 mutations were ascertained through TNDM1 diagnostic testing. ZFP57 was sequenced in probands and their relatives, and the methylation levels aDiabetes care505-12https://www.ebi.ac.uk/biostudies/studies/S-EPMC3579357biostudies-literatureTransient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.PMC3579357Haemers APNguyen PBTemple IKKockaerts YKordonouri OMackay DJHahnemann JMGronskov KPuthi VBoonen SEDocherty LSundberg FVu DCTumer ZLarsen LGAcerini CNgoc CTDayanikli PDooms LMassoud AFLehmann AfalseTransient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.<h4>Objective</h4>Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care because it has impact on the phenotype and recurrence risk for families. We have determined the genotype, phenotype, and epigenotype of the first 10 families to alert health professionals to this newly described genetic subgroup of diabetes.<h4>Research design and methods</h4>The 10 families (14 homozygous/compound heterozygous individuals) with ZFP57 mutations were ascertained through TNDM1 diagnostic testing. ZFP57 was sequenced in probands and their relatives, and the methylation levels a2013-01-01T00:00:00Z2013 Mar2026-05-03T14:14:22.876Z2026-04-07T19:14:56.832ZS-EPMC35793572315028010.2337/dc12-0700