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Article ; Online: YIPF5 mutations cause neonatal diabetes and microcephaly: progress for precision medicine and mechanistic understanding.

Pollin, Toni I / Taylor, Simeon I

2020 Volume 130, Issue 12, Page(s) 6228–6231

Abstract: Identifying genes that result in monogenic diabetes can provide insights that can build a scientific foundation for precision medicine. At present, nearly 20% of neonatal diabetes cases have unknown causes. In this issue of the JCI, De Franco and Lytrivi ...

Abstract	Identifying genes that result in monogenic diabetes can provide insights that can build a scientific foundation for precision medicine. At present, nearly 20% of neonatal diabetes cases have unknown causes. In this issue of the JCI, De Franco and Lytrivi et al. sequenced the genome of two probands with a rare neonatal diabetes subtype that also associated with microcephaly and epilepsy. The authors revealed mutations in the YIPF5 gene. YIPF5 resides in the Golgi apparatus and is thought to play a critical role in vesicular trafficking. Notably, disrupting YIPF5 in β cell-based models induced ER stress signaling and resulted in the accumulation of intracellular proinsulin. We believe that utilizing registries and biobanks to reveal other monogenic atypical forms of diabetes is an important approach to gaining insight and suggest that an insulin sensitizer may alleviate ER stress associated with YIPF5 disruption by decreasing the demand for insulin secretion.
MeSH term(s)	Diabetes Mellitus/genetics ; Endoplasmic Reticulum ; Endoplasmic Reticulum Stress ; Humans ; Infant, Newborn ; Insulin/genetics ; Microcephaly/genetics ; Mutation ; Precision Medicine
Chemical Substances	Insulin
Language	English
Publishing date	2020-10-22
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Comment
ZDB-ID	3067-3
ISSN	1558-8238 ; 0021-9738
ISSN (online)	1558-8238
ISSN	0021-9738
DOI	10.1172/JCI142364
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Article ; Online: Case 36-2023: A 19-Year-Old Man with Diabetes and Kidney Cysts.

Vivante, Asaf / Tan, Weizhen / Harrington, Samantha G / Udler, Miriam S / Pollin, Toni I

The New England journal of medicine

2023 Volume 389, Issue 21, Page(s) 1993–2003

MeSH term(s)	Humans ; Male ; Young Adult ; Cysts ; Diabetes Mellitus ; Kidney/diagnostic imaging ; Kidney Diseases, Cystic
Language	English
Publishing date	2023-11-22
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	207154-x
ISSN	1533-4406 ; 0028-4793
ISSN (online)	1533-4406
ISSN	0028-4793
DOI	10.1056/NEJMcpc2309347
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Article ; Online: Epigenetics Variation and Pathogenesis in Diabetes.

Zhang, Haichen / Pollin, Toni I

Current diabetes reports

2018 Volume 18, Issue 11, Page(s) 121

Abstract: Purpose of review: Great strides have recently been made in elucidating the role of genetic sequence variation in diabetes pathogenesis. Increasingly, studies are focusing on other factors that may contribute to the pathogenesis of diabetes, such as ... ...

Abstract	Purpose of review: Great strides have recently been made in elucidating the role of genetic sequence variation in diabetes pathogenesis. Increasingly, studies are focusing on other factors that may contribute to the pathogenesis of diabetes, such as epigenetics, a term "traditionally" encompassing changes to the DNA that do not alter sequence and are heritable (primary methylation and histone modification) but often expanded to include microRNAs. This review summarizes latest findings on the role of epigenetics in diabetes pathogenesis. Recent findings: Recent studies illustrate roles for methylation changes, histone modification, imprinting, and microRNAs across several diabetes types and complications. Notably, methylation changes in the human leukocyte antigen (HLA) region have been found to precede the development of type 1 diabetes. In type 2 diabetes, lifestyle factors appear to interact with epigenetic mechanisms in pathogenesis. Emerging technologies have allowed increasingly comprehensive descriptive analysis of the role of epigenetic mechanisms in diabetes pathogenesis which have yielded meaningful insights into effects on expression of relevant genes. These findings have the potential to inform future development of predictive testing to enable primary prevention and further work to uncover the complex pathogenesis of diabetes.
MeSH term(s)	DNA Methylation/genetics ; Diabetes Mellitus/genetics ; Epigenesis, Genetic ; Genomic Imprinting ; Histones/metabolism ; Humans ; MicroRNAs/genetics ; MicroRNAs/metabolism
Chemical Substances	Histones ; MicroRNAs
Language	English
Publishing date	2018-10-02
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2065167-3
ISSN	1539-0829 ; 1534-4827
ISSN (online)	1539-0829
ISSN	1534-4827
DOI	10.1007/s11892-018-1091-4
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Article ; Online: Patient perspectives on the diagnostic journey to a monogenic diabetes diagnosis: Barriers and facilitators.

Guan, Yue / Maloney, Kristin A / Pollin, Toni I

Journal of genetic counseling

2020 Volume 29, Issue 6, Page(s) 1106–1113

Abstract: Most monogenic diabetes is misdiagnosed as either type 1 or type 2 diabetes (T1D/T2D). Few studies have examined the diagnostic challenges from the patients' perspective. This qualitative study aimed to investigate patients' journeys to obtaining a ... ...

Abstract	Most monogenic diabetes is misdiagnosed as either type 1 or type 2 diabetes (T1D/T2D). Few studies have examined the diagnostic challenges from the patients' perspective. This qualitative study aimed to investigate patients' journeys to obtaining a diagnosis of maturity-onset diabetes of the young (MODY) by elucidating the range of factors that can act as barriers and facilitators throughout this process. We recruited participants from the Personalized Diabetes Medicine Program (PDMP) at University of Maryland and used respondent-driven sampling to recruit additional patients. We conducted qualitative phone interviews between October 2016 and June 2017 with nine patients with diagnoses of monogenic diabetes (one HNF4A-MODY, seven GCK-MODY, and one HNF1A-MODY) and one parent of a patient with INS-MODY. Interview data were audio recorded, transcribed, and analyzed both inductively and deductively using thematic content analysis. All patients were female, with a mean age of 35 (range: 7-67 years). The amount of time these patients were misdiagnosed ranged from a few months to 41 years. We identified barriers and facilitators in three broad themes: (a) patient-related (nature of MODY symptoms, perceived test utility, individual personality); (b) provider-related (provider awareness and knowledge, provider communication); and (c) healthcare system-related (cost of testing, access to knowledgeable providers, patient education, and support resources). The diverse range of barriers and facilitators reiterates the complexity of the MODY diagnostic process. Limited awareness and knowledge of MODY from healthcare professionals and patients themselves account for most diagnostic delays described in this study. Efforts to promote awareness of MODY and expand access to screening and testing may result in quicker diagnosis and ensure the downstream benefits of proper treatment.
MeSH term(s)	Adolescent ; Adult ; Aged ; Child ; Diabetes Mellitus, Type 2/diagnosis ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/psychology ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Young Adult
Language	English
Publishing date	2020-03-12
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1117799-8
ISSN	1573-3599 ; 1059-7700
ISSN (online)	1573-3599
ISSN	1059-7700
DOI	10.1002/jgc4.1247
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Article ; Online: Monogenic diabetes: a gateway to precision medicine in diabetes.

Zhang, Haichen / Colclough, Kevin / Gloyn, Anna L / Pollin, Toni I

The Journal of clinical investigation

2021 Volume 131, Issue 3

Abstract: Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene and accounts for approximately 1%-5% of diabetes. Correct diagnosis is clinically critical for certain types of monogenic diabetes, since the appropriate treatment ... ...

Abstract	Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene and accounts for approximately 1%-5% of diabetes. Correct diagnosis is clinically critical for certain types of monogenic diabetes, since the appropriate treatment is determined by the etiology of the disease (e.g., oral sulfonylurea treatment of HNF1A/HNF4A-diabetes vs. insulin injections in type 1 diabetes). However, achieving a correct diagnosis requires genetic testing, and the overlapping of the clinical features of monogenic diabetes with those of type 1 and type 2 diabetes has frequently led to misdiagnosis. Improvements in sequencing technology are increasing opportunities to diagnose monogenic diabetes, but challenges remain. In this Review, we describe the types of monogenic diabetes, including common and uncommon types of maturity-onset diabetes of the young, multiple causes of neonatal DM, and syndromic diabetes such as Wolfram syndrome and lipodystrophy. We also review methods of prioritizing patients undergoing genetic testing, and highlight existing challenges facing sequence data interpretation that can be addressed by forming collaborations of expertise and by pooling cases.
MeSH term(s)	Diabetes Mellitus/drug therapy ; Diabetes Mellitus/genetics ; Diabetes Mellitus/metabolism ; Genetic Diseases, Inborn/drug therapy ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/metabolism ; Hepatocyte Nuclear Factor 1-alpha/genetics ; Hepatocyte Nuclear Factor 1-alpha/metabolism ; Hepatocyte Nuclear Factor 4/genetics ; Hepatocyte Nuclear Factor 4/metabolism ; Humans ; Mutation ; Precision Medicine ; Sulfonylurea Compounds/therapeutic use
Chemical Substances	HNF1A protein, human ; HNF4A protein, human ; Hepatocyte Nuclear Factor 1-alpha ; Hepatocyte Nuclear Factor 4 ; Sulfonylurea Compounds
Language	English
Publishing date	2021-02-02
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	3067-3
ISSN	1558-8238 ; 0021-9738
ISSN (online)	1558-8238
ISSN	0021-9738
DOI	10.1172/JCI142244
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Article ; Online: In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY.

Pavithram, Aishwarya / Zhang, Haichen / Maloney, Kristin A / Ringdal, Monika / Kaci, Alba / Sagen, Jørn V / Kleinberger, Jeffrey / Jeng, Linda J B / Njølstad, Pål R / Pollin, Toni I / Molnes, Janne / Johansson, Bente B

The Journal of molecular diagnostics : JMD

2024 Volume 26, Issue 6, Page(s) 530–541

Abstract: Precision medicine relies on accurate and consistent classification of sequence variants. A correct diagnosis of hepatocyte nuclear factor (HNF) 1B maturity-onset diabetes of the young, caused by pathogenic variants in the HNF1B gene, is important for ... ...

Abstract	Precision medicine relies on accurate and consistent classification of sequence variants. A correct diagnosis of hepatocyte nuclear factor (HNF) 1B maturity-onset diabetes of the young, caused by pathogenic variants in the HNF1B gene, is important for optimal disease management and prognosis, and it has implications for genetic counseling and follow-up of at-risk family members. We hypothesized that the functional characterization could provide valuable information to assist the interpretation of pathogenicity of HNF1B variants. Using different in vitro functional assays, variants identified among 313 individuals, suspected to have monogenic diabetes with or without kidney disease, were characterized. The data from the functional assays were subsequently conjugated with obtained clinical, biochemical, and in silico data. Two variants (p.A167P, p.H336Pfs∗22) showed severe loss of function due to impaired transactivation, reduced DNA binding (p.A167P), and mRNA instability (p.A167P). Although both these variant carriers were diagnosed with diabetes, the p.H336Pfs∗22 carrier also had congenital absence of a kidney, which is a characteristic trait for HNF1B maturity-onset diabetes of the young. Functional analysis of the p.A167P variant revealed damaging effects on HNF-1B protein function, which may warrant imaging of the kidneys and/or pancreas. In addition, the current study has generated important data, including evidence supporting the benign functional impact of five variants (p.D82N, p.T88A, p.N394D, p.V458G, and p.T544A), and piloting new approaches that will prove critical for the growth of HNF1B-diabetes diagnosis.
MeSH term(s)	Humans ; Hepatocyte Nuclear Factor 1-beta/genetics ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/diagnosis ; Female ; Male ; Adult ; Precision Medicine/methods ; Mutation ; Adolescent ; Middle Aged ; Young Adult
Chemical Substances	HNF1B protein, human
Language	English
Publishing date	2024-04-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	2000060-1
ISSN	1943-7811 ; 1525-1578
ISSN (online)	1943-7811
ISSN	1525-1578
DOI	10.1016/j.jmoldx.2024.03.006
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Article ; Online: Epigenetics and diabetes risk: not just for imprinting anymore?

Pollin, Toni I

Diabetes

2011 Volume 60, Issue 7, Page(s) 1859–1860

MeSH term(s)	Adiposity/genetics ; Child ; DNA Methylation/physiology ; Diabetes Mellitus/etiology ; Epigenesis, Genetic ; Female ; Genomic Imprinting/physiology ; Humans ; Maternal Exposure ; Pregnancy ; Promoter Regions, Genetic/genetics ; Risk
Language	English
Publishing date	2011-06-27
Publishing country	United States
Document type	Comment ; Journal Article
ZDB-ID	80085-5
ISSN	1939-327X ; 0012-1797
ISSN (online)	1939-327X
ISSN	0012-1797
DOI	10.2337/db11-0515
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Article ; Online: Advances in the Genetics of Youth-Onset Type 2 Diabetes.

Todd, Jennifer N / Srinivasan, Shylaja / Pollin, Toni I

Current diabetes reports

2018 Volume 18, Issue 8, Page(s) 57

Abstract: Purpose of review: To provide an update on knowledge the role of genetics in youth-onset type 2 diabetes (T2D).: Recent findings: The prevalence in youth of T2D, once thought to be exclusively a disease of adults, has increased by over 35% since 2001. ...

Abstract	Purpose of review: To provide an update on knowledge the role of genetics in youth-onset type 2 diabetes (T2D). Recent findings: The prevalence in youth of T2D, once thought to be exclusively a disease of adults, has increased by over 35% since 2001. Youth with T2D tend to have higher rates of complications, more aggressive disease, with more rapid loss of beta-cell function and a less favorable response to treatment than adults. Obesity is the most important risk factor for T2D, and the rise in childhood overweight and obesity appears responsible for the dramatic increase in T2D in youth. However, some obese children do not develop T2D, consistent with genetic differences in susceptibility to the disease in the setting of obesity and insulin resistance, currently far less well characterized in youth than in adults. Recent studies have begun to show associations of several established adult T2D genetic risk variants with youth-onset T2D and related glycemic quantitative traits, including the strongest known cross-population T2D genetic contributor TCF7L2. Maturity-onset diabetes of the young (MODY), a diabetes subtype distinct from type 1 diabetes (T1D) and T2D, is now known to result from a highly penetrant gene mutation in one of several genes. MODY has been shown to account for or contribute to at least 4.5% of clinically diagnosed T2D, even among those who are overweight or obese, impacting treatment decisions. The recently formed ProDiGY (Progress in Diabetes Genetics in Youth) Consortium is using genome-wide association studies and whole exome sequencing to understand the genetic architecture of T2D in youth, including how it differs from that of adults. The limited amount of research conducted to date on the genetics of youth-onset T2D, which tends to be a more aggressive disease than adult T2D, suggests some overlap with genes involved in adult T2D and a sizeable influence of highly penetrant monogenic diabetes variants. The ProDiGY Consortium is expected to provide a more comprehensive understanding of youth T2D genetics.
MeSH term(s)	Adolescent ; Age of Onset ; Diabetes Mellitus, Type 2/complications ; Diabetes Mellitus, Type 2/diagnosis ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/physiopathology ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Mutation/genetics ; Risk Factors
Language	English
Publishing date	2018-06-22
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Review
ZDB-ID	2065167-3
ISSN	1539-0829 ; 1534-4827
ISSN (online)	1539-0829
ISSN	1534-4827
DOI	10.1007/s11892-018-1025-1
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Article ; Online: Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings, Liana K / Shi, Zhuqing / Resurreccion, W Kyle / Wang, Chi-Hsiung / Wei, Jun / Pollin, Toni I / Udler, Miriam S / Xu, Jianfeng

Endocrinology, diabetes & metabolism

2022 Volume 5, Issue 6, Page(s) e372

Abstract: Aims: Numerous genes have been proposed as causal for maturity-onset diabetes of the young (MODY). Scoring systems to annotate mutation pathogenicity have been widely used; however, statistical evidence for being a highly penetrant MODY gene has not ... ...

Abstract	Aims: Numerous genes have been proposed as causal for maturity-onset diabetes of the young (MODY). Scoring systems to annotate mutation pathogenicity have been widely used; however, statistical evidence for being a highly penetrant MODY gene has not been well-established. Methods: Participants were from the UK Biobank with whole-exome sequencing data, including 14,622 with and 185,509 without diagnosis of diabetes. Pathogenic/likely pathogenic (P/LP) mutations in 14 reported and 3 possible MODY genes were annotated using American College of Medical Genetics criteria. Evidence for being a high-penetrant MODY gene used two statistical criteria: frequency of aggregate P/LP mutations in each gene are (1) significantly more common in participants with a diagnosis of diabetes than without using the SKAT-O (p < .05) and (2) lower than the maximum credible frequency in the general population. Results: Among the 17 genes, 6 (GCK, HNF1A, HNF4A, NEUROD1, KCNJ11 and HNF1B) met both criteria, 7 (ABCC8, KLF11, RFX6, PCBD1, WFS1, INS and PDX1) met only one criterion, and the remaining 4 (CEL, BLK, APPL1 and PAX4) failed both criteria, and were classified as 'consistent', 'inconclusive' and 'inconsistent' for being highly penetrant diabetes genes, respectively. Diabetes participants with mutations in the 'consistent' genes had clinical presentations that were most consistent with MODY. In contrast, the 'inconclusive' and 'inconsistent' genes did not differ clinically from non-carriers in diabetes-related characteristics. Conclusions: Data from a large population-based study provided novel statistical evidence to identify 6 MODY genes as consistent with being highly penetrant. These results have potential implications for interpreting genetic testing results and clinical diagnosis of MODY.
MeSH term(s)	Humans ; Penetrance ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/diagnosis ; Mutation ; Cohort Studies
Language	English
Publishing date	2022-10-08
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	2398-9238
ISSN (online)	2398-9238
DOI	10.1002/edm2.372
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Article ; Online: Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.

Lynch, Megan T / Maloney, Kristin A / Pollin, Toni I / Streeten, Elizabeth A / Puffenberger, Erik G / Strauss, Kevin A / Shuldiner, Alan R / Mitchell, Braxton D

American journal of medical genetics. Part A

2022 Volume 188, Issue 7, Page(s) 2119–2128

Abstract: Genetically isolated populations that arise due to recent bottleneck events have reduced genetic variation reflecting the common set of founders. Increased genetic relatedness among members of isolated populations puts them at increased risk for some ... ...

Abstract	Genetically isolated populations that arise due to recent bottleneck events have reduced genetic variation reflecting the common set of founders. Increased genetic relatedness among members of isolated populations puts them at increased risk for some recessive disorders that are rare in outbred populations. To assess the burden on reproductive health, we compared frequencies of adverse reproductive outcomes between Amish couples who were both heterozygous carriers of a highly penetrant pathogenic or likely pathogenic variant and noncarrier couples from the same Amish community. In addition, we evaluated whether overall genetic relatedness of parents was associated with reproductive outcomes. Of the 1824 couples included in our study, 11.1% were at risk of producing a child with an autosomal recessive disorder. Carrier couples reported a lower number of miscarriages compared to noncarrier couples (p = 0.02), although the number of stillbirths (p = 0.3), live births (p = 0.9), and number of pregnancies (p = 0.9) did not differ significantly between groups. In contrast, higher overall relatedness between spouses was positively correlated with number of live births (p < 0.0001), pregnancies (p < 0.0001), and stillbirths (p = 0.03), although not with the number of miscarriages (p = 0.4). These results highlight a complex association between relatedness of parents and reproductive health outcomes in this community.
MeSH term(s)	Abortion, Spontaneous/epidemiology ; Abortion, Spontaneous/genetics ; Amish/genetics ; Female ; Heterozygote ; Humans ; Infant, Newborn ; Parents ; Pregnancy ; Stillbirth/epidemiology ; Stillbirth/genetics
Language	English
Publishing date	2022-04-20
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62757
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