Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature

Touati, A.; Errea-Dorronsoro, Javier; Nouri, Saeed; Halleb, Yosra; Pereda, Arrate; Mahdhaoui, N.; Ghith, A.; Saâd, Ali; Nanclares, Guiomar Pérez de; Brahim, D. H’mida Ben

doi:10.1007/s00592-018-1239-3

Cited by 28 publications

(16 citation statements)

References 25 publications

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“…Defects in KCNJ11, ABCC8, INS, and SLC2A2 can trigger either TNDM or PNDM 1,16) . Despite the ultimate cessation of exogenous insulin treatment in TNDM, the probability rate of relapse and progression to PNDM is as high as 50% 3) . Intrau terine growth retardation is commonly observed in cases of TNDM because insulin acts as a fetal growth hormone, and, consequently, its insufficiency coupled with failure of trans placental insulin deli very causes newborns with TNDM to be born small for gestational age 17,18) .…”

Section: Discussionmentioning

confidence: 99%

“…Conversely, permanent neonatal diabetes mellitus (PNDM) requires lifelong insulin therapy 2) . TNDM is frequently caused by the overexpression of PLAGL1 and HYMA1 due to defects in 6q24, and the overall prevalence and presenting fea tures vary with race and ethnicity 3) . More than 40% of PNDM cases are caused by muta tions in either KCNJ11 or ABCC8 4) .…”

Section: Introductionmentioning

confidence: 99%

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Transient Neonatal Diabetes Mellitus Managed with Continuous Subcutaneous Insulin Infusion (CSII) and Continuous Glucose Monitoring

Kim

Lee

et al. 2021

Neonatal Med

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Neonatal diabetes mellitus can be categorized as transient, permanent, or syndromic, and approximately half of the cases are transient. We present a case involving a term newborn who showed overt progression of transient neonatal diabetes mellitus, with complete remission within 6 months. On the second day of life, the patient pre sented with tachypnea, hyperglycemia, and decreased serum levels of Cpeptide and insulin. Continuous subcutaneous infusion of insulin and continuous glucose monitoring were well tolerated. The patient showed a normal growth pattern, with no hyperglycemic or hypoglycemic episodes at 6 months of age. As it is rare and often asymptomatic, hyperglycemia may be attributed to various factors, including intrauterine environment, perinatal stress, and diverse genetic background. There fore, consistent blood glucose monitoring and prompt early insulin therapy are crucial for any term newborns with persistent hyperglycemia, to prevent further diabetic complications. Moreover, continuous subcutaneous insulin infusion and the utilization of continuous glucose monitoring devices are the most effective and practical management strategies.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Transient Neonatal Diabetes Mellitus Managed with Continuous Subcutaneous Insulin Infusion (CSII) and Continuous Glucose Monitoring

Kim

Lee

et al. 2021

Neonatal Med

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“…Recessive mutations in the human orthologue causes transient neonatal diabetes mellitus (TNDM) associated with multi-locus methylation disturbance (MLID) ( 20 ), a phenomenon in which loss-of-methylation (LOM) at numerous imprinted DMRs is observed in addition to the disease-associated loci ( 2 ). To date, 14 families have been described with either missense or truncating mutations in ZFP57 ( 21 , 22 ), all have a notably similar methylation signature; complete hypomethylation of the PLAGL1 DMR ( PLAGL1 :alt-TSS-DMR) and variable combinations of mosaic hypomethylation at GRB10 ( GRB10 :alt-TSS-DMR), PEG3 ( PEG3 :TSS-DMR), MEST ( MEST :alt-TSS-DMR), NAP1L5 ( NAP1L5 :TSS-DMR) and GNAS ( GNAS-AS1 :TSS-DMR). However, whether ZFP57 can directly regulate those loci has not been addressed.…”

Section: Introductionmentioning

confidence: 99%

The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances

Monteagudo-Sánchez

Mora

Simón

et al. 2020

Nucleic Acids Research

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Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation that is resistant to embryonic reprogramming, resulting in parental origin-specific monoallelic gene expression. A subset of individuals affected by imprinting disorders (IDs) displays multi-locus imprinting disturbances (MLID), which may result from aberrant establishment of imprinted differentially methylated regions (DMRs) in gametes or their maintenance in early embryogenesis. Here we investigated the extent of MLID in a family harbouring a ZFP57 truncating variant and characterize the interactions between human ZFP57 and the KAP1 co-repressor complex. By ectopically targeting ZFP57 to reprogrammed loci in mouse embryos using a dCas9 approach, we confirm that ZFP57 recruitment is sufficient to protect oocyte-derived methylation from reprogramming. Expression profiling in human pre-implantation embryos and oocytes reveals that unlike in mice, ZFP57 is only expressed following embryonic-genome activation, implying that other KRAB-zinc finger proteins (KZNFs) recruit KAP1 prior to blastocyst formation. Furthermore, we uncover ZNF202 and ZNF445 as additional KZNFs likely to recruit KAP1 to imprinted loci during reprogramming in the absence of ZFP57. Together, these data confirm the perplexing link between KZFPs and imprint maintenance and highlight the differences between mouse and humans in this respect.

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“…More than 30 different genetic causes have been described in any of the biological pathways that regulate glucose homeostasis by affecting mechanisms of insulin release or pancreatic development and sustainability. Some of the more common mutations can result in both TNDM and PNDM . Children with TNDM can relapse and get diabetes again later in life .…”

Section: Introductionmentioning

confidence: 99%

“…common mutations can result in both TNDM and PNDM. 6,7 Children with TNDM can relapse and get diabetes again later in life. 6,8 In contrast to type 1 diabetes mellitus, autoantibodies are not identified in NDM except for in very rare syndromes affecting the immune system.…”

mentioning

confidence: 99%

Successful treatment of a cohort of infants with neonatal diabetes using insulin pumps including data on genetics and estimated incidence

et al. 2019

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Neonatal diabetes mellitus (NDM) is defined as diabetes with an onset before six months of age. NDM can either be transient (TNDM) or remain as permanent neonatal diabetes mellitus (PNDM). The prevalence of PNDM has been reported as one in 215 000 children in Slovakia 1 and one in 260 000 children in three other European countries: the UK, the Netherlands and Poland. 2 Other authors have proposed that NDM is less rare, with the minimal incidence of NDM (PNDM and TNDM) in Italy estimated to one in 90 000. 3 Also, a higher incidence of PNDM of one in 40 000 has been reported from Oman where consanguineous marriages are more common. 4,5 Among patients undergoing genetic testing, PNDM constitutes 40%-50% of cases of NDM. 6 More than 30 different genetic causes have been described in any of the biological pathways that regulate glucose homeostasis by affecting mechanisms of insulin release or pancreatic development and sustainability. Some of the more

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Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature

Cited by 28 publications

References 25 publications

Transient Neonatal Diabetes Mellitus Managed with Continuous Subcutaneous Insulin Infusion (CSII) and Continuous Glucose Monitoring

Transient Neonatal Diabetes Mellitus Managed with Continuous Subcutaneous Insulin Infusion (CSII) and Continuous Glucose Monitoring

The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances

Successful treatment of a cohort of infants with neonatal diabetes using insulin pumps including data on genetics and estimated incidence

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