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Article ; Online: Neonatal diabetes caused by disrupted pancreatic and β-cell development.

De Franco, Elisa

Diabetic medicine : a journal of the British Diabetic Association

2021 Volume 38, Issue 12, Page(s) e14728

Abstract: Neonatal diabetes is diagnosed before the age of 6 months and is usually caused by single-gene mutations. More than 30 genetic causes of neonatal diabetes have been described to date, resulting in severely reduced β-cell number or function. Seven of ... ...

Abstract	Neonatal diabetes is diagnosed before the age of 6 months and is usually caused by single-gene mutations. More than 30 genetic causes of neonatal diabetes have been described to date, resulting in severely reduced β-cell number or function. Seven of these genes are known to cause neonatal diabetes through disrupted development of the whole pancreas, resulting in diabetes and exocrine pancreatic insufficiency. Pathogenic variants in five transcription factors essential for β-cell development cause neonatal diabetes without other pancreatic phenotypes. However, additional extra-pancreatic features are common. This review will focus on the genes causing neonatal diabetes through disrupted β-cell development, discussing what is currently known about the genetic and phenotypic features of these genetic conditions, and what discoveries may come in the future.
MeSH term(s)	Diabetes Mellitus, Type 1/genetics ; Diabetes Mellitus, Type 1/metabolism ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases/genetics ; Infant, Newborn, Diseases/metabolism ; Mutation ; Pancreas/metabolism ; Phenotype ; Transcription Factors/genetics
Chemical Substances	Transcription Factors
Language	English
Publishing date	2021-10-26
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	605769-x
ISSN	1464-5491 ; 0742-3071 ; 1466-5468
ISSN (online)	1464-5491
ISSN	0742-3071 ; 1466-5468
DOI	10.1111/dme.14728
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Article ; Online: From Biology to Genes and Back Again: Gene Discovery for Monogenic Forms of Beta-Cell Dysfunction in Diabetes.

De Franco, Elisa

Journal of molecular biology

2019 Volume 432, Issue 5, Page(s) 1535–1550

Abstract: This review focuses on gene discovery strategies used to identify monogenic forms of diabetes caused by reduced pancreatic beta-cell number (due to destruction or defective development) or impaired beta-cell function. Gene discovery efforts in monogenic ... ...

Abstract	This review focuses on gene discovery strategies used to identify monogenic forms of diabetes caused by reduced pancreatic beta-cell number (due to destruction or defective development) or impaired beta-cell function. Gene discovery efforts in monogenic diabetes have identified 36 genes so far. These genetic causes have been identified using four main approaches: linkage analysis, candidate gene sequencing and most recently, exome and genome sequencing. The advent of next-generation sequencing has allowed researchers to move away from linkage analysis (relying on large pedigrees and/or multiple families with the same genetic condition) and candidate gene (relying on previous knowledge on the gene's role) strategies to use a gene agnostic approach, utilizing genetic evidence (such as variant frequency, predicted variant effect on protein function, and predicted mode of inheritance) to identify the causative mutation. This approach led to the identification of seven novel genetic causes of monogenic diabetes, six by exome sequencing and one by genome sequencing. In many of these cases, the disease-causing gene was not known to be important for beta-cell function prior to the gene discovery study. These novel findings highlight a new role for gene discovery studies in furthering our understanding of beta-cell function and dysfunction in diabetes. While many gene discovery studies in the past were led by knowledge in the field (through the candidate gene strategy), now they often lead the scientific advances in the field by identifying new important biological players to be further characterized by in vitro and in vivo studies.
MeSH term(s)	Diabetes Mellitus, Type 2/genetics ; Genetic Association Studies ; Genetic Diseases, Inborn/genetics ; Genetic Testing ; Genome-Wide Association Study ; High-Throughput Nucleotide Sequencing ; Humans ; Insulin-Secreting Cells/pathology ; Mutation ; Whole Exome Sequencing
Language	English
Publishing date	2019-08-31
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	80229-3
ISSN	1089-8638 ; 0022-2836
ISSN (online)	1089-8638
ISSN	0022-2836
DOI	10.1016/j.jmb.2019.08.016
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Article ; Online: Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth.

Hughes, Alice E / De Franco, Elisa / Freathy, Rachel M / Flanagan, Sarah E / Hattersley, Andrew T

The Journal of clinical investigation

2023 Volume 133, Issue 6

MeSH term(s)	Humans ; Insulin/genetics ; Fetus ; Endocrinology ; Fetal Development/genetics ; Obstetrics ; Gynecology
Chemical Substances	Insulin
Language	English
Publishing date	2023-03-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	3067-3
ISSN	1558-8238 ; 0021-9738
ISSN (online)	1558-8238
ISSN	0021-9738
DOI	10.1172/JCI165402
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Article: Pathological β-Cell Endoplasmic Reticulum Stress in Type 2 Diabetes: Current Evidence.

Shrestha, Neha / De Franco, Elisa / Arvan, Peter / Cnop, Miriam

Frontiers in endocrinology

2021 Volume 12, Page(s) 650158

Abstract: The notion that in diabetes pancreatic β-cells express endoplasmic reticulum (ER) stress markers indicative of increased unfolded protein response (UPR) signaling is no longer in doubt. However, what remains controversial is whether this increase in ER ... ...

Abstract	The notion that in diabetes pancreatic β-cells express endoplasmic reticulum (ER) stress markers indicative of increased unfolded protein response (UPR) signaling is no longer in doubt. However, what remains controversial is whether this increase in ER stress response actually contributes importantly to the β-cell failure of type 2 diabetes (akin to 'terminal UPR'), or whether it represents a coping mechanism that represents the best attempt of β-cells to adapt to changes in metabolic demands as presented by disease progression. Here an intercontinental group of experts review evidence for the role of ER stress in monogenic and type 2 diabetes in an attempt to reconcile these disparate views. Current evidence implies that pancreatic β-cells require a regulated UPR for their development, function and survival, as well as to maintain cellular homeostasis in response to protein misfolding stress. Prolonged ER stress signaling, however, can be detrimental to β-cells, highlighting the importance of "optimal" UPR for ER homeostasis, β-cell function and survival.
MeSH term(s)	Animals ; Cell Survival ; Diabetes Mellitus, Type 2/metabolism ; Endoplasmic Reticulum/metabolism ; Endoplasmic Reticulum Stress ; Endoribonucleases/metabolism ; Gene Expression Regulation ; Genome-Wide Association Study ; Homeostasis ; Humans ; Insulin-Secreting Cells/cytology ; Mice ; Phenotype ; Protein Denaturation ; Protein Folding ; Protein Serine-Threonine Kinases/metabolism ; Protein Transport ; RNA, Messenger/metabolism ; Signal Transduction ; Unfolded Protein Response/physiology
Chemical Substances	RNA, Messenger ; ERN1 protein, human (EC 2.7.11.1) ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; Endoribonucleases (EC 3.1.-)
Language	English
Publishing date	2021-04-22
Publishing country	Switzerland
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2021.650158
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Article ; Online: MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra-pancreatic congenital defects presenting in severe diabetic ketoacidosis.

Aly, Hanan Hassan / De Franco, Elisa / Flanagan, Sarah E / Elhenawy, Yasmine I

Journal of diabetes investigation

2022 Volume 14, Issue 4, Page(s) 516–521

Abstract: The MNX1 gene encodes a homeobox transcription factor found to be important for pancreatic beta cell differentiation and development. Mutations of the MNX1 gene that cause permanent neonatal diabetes mellitus (PNDM) are rare and have been reported in ... ...

Abstract	The MNX1 gene encodes a homeobox transcription factor found to be important for pancreatic beta cell differentiation and development. Mutations of the MNX1 gene that cause permanent neonatal diabetes mellitus (PNDM) are rare and have been reported in only two cases. Both cases presented with hyperglycemia, with one case having isolated PNDM while the other had PNDM and multiple neurologic, skeletal, lung, and urologic congenital anomalies resulting in death in early infancy. We describe the genetic and clinical features of a preterm male infant with a homozygous [c.816C > A p.(Phe272Leu)] MNX1 mutation. Our proband is the first case to present in severe diabetic ketoacidosis (DKA), indicating severe insulin deficiency. Unlike the previously reported female case who had the same mutation and presented with isolated PNDM, our proband had hypospadias and congenital umbilical hernia and showed poor growth on follow up. Our case suggests that MNX1 mutations causing NDM can result in a range of extra-pancreatic features and a variable phenotype, similar to other transcription factors causing NDM such as GATA6 and GATA4 mutations. We also cannot exclude the possibility of sex-biased expression of MNX1 gene (which was recently reported for other monogenic/neonatal diabetes genes such as the NEUROD1 and HNF4A in humans) since the two male cases had associated multiple anomalies while the female case had isolated PNDM. Our report further defines the phenotype caused by recessive homozygous MNX1 mutations and explores potential new mechanisms regulating MNX1 gene expression which should be further explored.
MeSH term(s)	Infant ; Infant, Newborn ; Male ; Humans ; Female ; Diabetic Ketoacidosis/complications ; Diabetic Ketoacidosis/genetics ; Genes, Homeobox ; Diabetes Mellitus/genetics ; Pancreas ; Mutation ; Transcription Factors/genetics ; Infant, Newborn, Diseases ; Homeodomain Proteins/genetics
Chemical Substances	Transcription Factors ; MNX1 protein, human ; Homeodomain Proteins
Language	English
Publishing date	2022-12-31
Publishing country	Japan
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2625840-7
ISSN	2040-1124 ; 2040-1116
ISSN (online)	2040-1124
ISSN	2040-1116
DOI	10.1111/jdi.13968
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Article ; Online: Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.

Globa, Evgenia / Zelinska, Nataliya / Johnson, Matthew B / Flanagan, Sarah E / De Franco, Elisa

Diabetic medicine : a journal of the British Diabetic Association

2022 Volume 40, Issue 5, Page(s) e15013

Abstract: Aims: The aim of this study is to elucidate the aetiology and clinical features of neonatal and early-onset diabetes in a large database for pediatric diabetes patients in Ukraine.: Methods: We established a Pediatric Diabetes Register to identify ... ...

Abstract	Aims: The aim of this study is to elucidate the aetiology and clinical features of neonatal and early-onset diabetes in a large database for pediatric diabetes patients in Ukraine. Methods: We established a Pediatric Diabetes Register to identify patients diagnosed with diabetes before 9 months of age. Genetic testing was undertaken for 66 patients from 65 unrelated families with diabetes diagnosed within the first 6 months of life (neonatal diabetes, n = 36) or between 6 and 9 months (early-onset diabetes, n = 30). Results: We determined the genetic aetiology in 86.1% of patients (31/36) diagnosed before 6 months and in 20% (6/30) diagnosed between 6 and 9 months. Fourteen individuals (37.8% of those with a genetic cause identified) had activating heterozygous variants in ABCC8 or KCNJ11. An additional 10 individuals had pathogenic variants in the INS or GCK genes, while 4 had 6q24 transient neonatal diabetes. Rare genetic subtypes (including pathogenic variants in EIF2AK3, GLIS3, INSR, PDX1, LRBA, RFX6 and FOXP3) were identified in nine probands (24.3% of solved cases), 6 of whom died. In total, eight individuals died between infancy and childhood, all of them were diagnosed before 6 months and had received a genetic diagnosis. Conclusions: In the last decade, the increased availability of comprehensive genetic testing has resulted in increased recognition of the contribution of rare genetic subtypes within pediatric diabetes cohorts. In our study, we identified a high mortality rate among these patients.
MeSH term(s)	Infant, Newborn ; Humans ; Child ; Ukraine ; Diabetes Mellitus/diagnosis ; Genetic Testing ; Infant, Newborn, Diseases/genetics ; Adaptor Proteins, Signal Transducing/genetics
Chemical Substances	LRBA protein, human (EC 2.7.10.-) ; Adaptor Proteins, Signal Transducing
Language	English
Publishing date	2022-12-15
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	605769-x
ISSN	1464-5491 ; 0742-3071 ; 1466-5468
ISSN (online)	1464-5491
ISSN	0742-3071 ; 1466-5468
DOI	10.1111/dme.15013
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Article ; Online: SavvyCNV: Genome-wide CNV calling from off-target reads.

Laver, Thomas W / De Franco, Elisa / Johnson, Matthew B / Patel, Kashyap A / Ellard, Sian / Weedon, Michael N / Flanagan, Sarah E / Wakeling, Matthew N

PLoS computational biology

2022 Volume 18, Issue 3, Page(s) e1009940

Abstract: Identifying copy number variants (CNVs) can provide diagnoses to patients and provide important biological insights into human health and disease. Current exome and targeted sequencing approaches cannot detect clinically and biologically-relevant CNVs ... ...

Abstract	Identifying copy number variants (CNVs) can provide diagnoses to patients and provide important biological insights into human health and disease. Current exome and targeted sequencing approaches cannot detect clinically and biologically-relevant CNVs outside their target area. We present SavvyCNV, a tool which uses off-target read data from exome and targeted sequencing data to call germline CNVs genome-wide. Up to 70% of sequencing reads from exome and targeted sequencing fall outside the targeted regions. We have developed a new tool, SavvyCNV, to exploit this 'free data' to call CNVs across the genome. We benchmarked SavvyCNV against five state-of-the-art CNV callers using truth sets generated from genome sequencing data and Multiplex Ligation-dependent Probe Amplification assays. SavvyCNV called CNVs with high precision and recall, outperforming the five other tools at calling CNVs genome-wide, using off-target or on-target reads from targeted panel and exome sequencing. We then applied SavvyCNV to clinical samples sequenced using a targeted panel and were able to call previously undetected clinically-relevant CNVs, highlighting the utility of this tool within the diagnostic setting. SavvyCNV outperforms existing tools for calling CNVs from off-target reads. It can call CNVs genome-wide from targeted panel and exome data, increasing the utility and diagnostic yield of these tests. SavvyCNV is freely available at https://github.com/rdemolgen/SavvySuite.
MeSH term(s)	Algorithms ; DNA Copy Number Variations/genetics ; Exome/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Multiplex Polymerase Chain Reaction ; Whole Exome Sequencing
Language	English
Publishing date	2022-03-16
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2193340-6
ISSN	1553-7358 ; 1553-734X
ISSN (online)	1553-7358
ISSN	1553-734X
DOI	10.1371/journal.pcbi.1009940
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Article ; Online: Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.

De Franco, Elisa / Ellard, Sian

Pediatric clinics of North America

2015 Volume 62, Issue 4, Page(s) 1037–1053

Abstract: The use of targeted gene panels now allows the analysis of all the genes known to cause a disease in a single test. For neonatal diabetes, this has resulted in a paradigm shift with patients receiving a genetic diagnosis early and the genetic results ... ...

Abstract	The use of targeted gene panels now allows the analysis of all the genes known to cause a disease in a single test. For neonatal diabetes, this has resulted in a paradigm shift with patients receiving a genetic diagnosis early and the genetic results guiding their clinical management. Exome and genome sequencing are powerful tools to identify novel genetic causes of known diseases. For neonatal diabetes, the use of these technologies has resulted in the identification of 2 novel disease genes (GATA6 and STAT3) and a novel regulatory element of PTF1A, in which mutations cause pancreatic agenesis.
MeSH term(s)	Diabetes Mellitus/classification ; Diabetes Mellitus/genetics ; Exome ; Genetic Testing/methods ; Genome ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases/classification ; Infant, Newborn, Diseases/genetics ; Sequence Analysis
Language	English
Publishing date	2015-08
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	215711-1
ISSN	1557-8240 ; 0031-3955
ISSN (online)	1557-8240
ISSN	0031-3955
DOI	10.1016/j.pcl.2015.04.012
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Article: Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report.

Lundgren, Markus / De Franco, Elisa / Arnell, Henrik / Fischler, Björn

Clinical case reports

2019 Volume 7, Issue 6, Page(s) 1133–1138

Abstract: Wolcott-Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with ... ...

Abstract	Wolcott-Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a
Language	English
Publishing date	2019-05-01
Publishing country	England
Document type	Case Reports
ZDB-ID	2740234-4
ISSN	2050-0904
ISSN	2050-0904
DOI	10.1002/ccr3.2168
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Article ; Online: Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP.

Perera, Luke A / Hattersley, Andrew T / Harding, Heather P / Wakeling, Matthew N / Flanagan, Sarah E / Mohsina, Ibrahim / Raza, Jamal / Gardham, Alice / Ron, David / De Franco, Elisa

EMBO molecular medicine

2023 Volume 15, Issue 3, Page(s) e16491

Abstract: Dysfunction of the endoplasmic reticulum (ER) in insulin-producing beta cells results in cell loss and diabetes mellitus. Here we report on five individuals from three different consanguineous families with infancy-onset diabetes mellitus and severe ... ...

Abstract	Dysfunction of the endoplasmic reticulum (ER) in insulin-producing beta cells results in cell loss and diabetes mellitus. Here we report on five individuals from three different consanguineous families with infancy-onset diabetes mellitus and severe neurodevelopmental delay caused by a homozygous p.(Arg371Ser) mutation in FICD. The FICD gene encodes a bifunctional Fic domain-containing enzyme that regulates the ER Hsp70 chaperone, BiP, via catalysis of two antagonistic reactions: inhibitory AMPylation and stimulatory deAMPylation of BiP. Arg371 is a conserved residue in the Fic domain active site. The FICD
MeSH term(s)	Animals ; Cricetinae ; Humans ; Infant ; Endoplasmic Reticulum Chaperone BiP ; Protein Processing, Post-Translational ; Cricetulus ; Adenosine Monophosphate ; Diabetes Mellitus
Chemical Substances	Endoplasmic Reticulum Chaperone BiP ; Adenosine Monophosphate (415SHH325A)
Language	English
Publishing date	2023-01-27
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2467145-9
ISSN	1757-4684 ; 1757-4676
ISSN (online)	1757-4684
ISSN	1757-4676
DOI	10.15252/emmm.202216491
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