scholarly journals Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report

2021 ◽  
Vol 12 ◽  
Author(s):  
Mei Guo ◽  
Qinqin Xu ◽  
Xuefeng Yu ◽  
Qin Yang ◽  
Shiying Shao
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Gene Sequencing ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Exon 2 ◽  
Case Presentation ◽  
Dorsal Pancreas ◽  
Heterozygous Variant ◽  
Missed Diagnosis

BackgroundAgenesis of the dorsal pancreas (ADP) is a rare disease, the pathogenic mechanism of which is partially related to variants of hepatocyte nuclear factor 1B (HNF1B) gene.Case PresentationWe report a case of ADP, which presented with acute ketoacidosis, hyperuricemia, and liver dysfunction. In this case, the HNF1B score was estimated as 16 and a heterozygous variant of HNF1B in exon 2 (c.513G>A-p.W171X) was identified through gene sequencing.ConclusionsA good understanding of the clinical comorbidities of ADP is essential for avoiding missed diagnosis to a great extent. Moreover, estimation of HNF1B score is recommended before genetic testing.

scholarly journals Utility of genetic testing in suspected familial cranial diabetes insipidus

2013 ◽  
Vol 2013 ◽  
Author(s):  
Ramesh Srinivasan ◽  
Stephen Ball ◽  
Martin Ward-Platt ◽  
David Bourn ◽  
Ciaron McAnulty ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Diabetes Insipidus ◽  
Index Case ◽  
Gene Sequencing ◽  
Pathogenic Mutation ◽  
List Type ◽  
Exon 2 ◽  
Primary Polydipsia ◽  
Vasopressin Gene ◽  
Cranial Diabetes Insipidus

Summary Aim: Differentiating familial cranial diabetes insipidus (CDI) from primary polydipsia can be difficult. We report the diagnostic utility of genetic testing as a means of confirming or excluding this diagnosis. Patient and methods: The index case presented at 3 months with polydipsia. He was diagnosed with familial CDI based on a positive family history combined with what was considered to be suspicious symptomatology and biochemistry. He was treated with desmopressin (DDAVP) but re-presented at 5 months of age with hyponatraemia and the DDAVP was stopped. Gene sequencing of the vasopressin gene in father and his offspring was undertaken to establish the underlying molecular defect. Results: Both father and daughter were found to have the pathogenic mutation c.242T>C (p.Leu81Pro) in exon 2 of the AVP gene consistent with a diagnosis of familial diabetes insipidus. The index case did not have the pathogenic mutation and the family could be reassured that he would not require intervention with DDAVP. Conclusions: Gene sequencing of AVP gene can have a valuable role in predicting whether or not a child is at risk of developing CDI in future. This can help to prevent family uncertainty and unnecessary treatment with its associated risks. Learning points Differentiating patients with familial cranial diabetes insipidus from those with primary polydipsia is not always straightforward. Molecular genetic analysis of the vasopressin gene is a valuable way of confirming or refuting a diagnosis of familial CDI in difficult cases and is a valuable way of identifying individuals who will develop CDI in later childhood. This information can be of great value to families.

scholarly journals Hepatocyte nuclear factor 6: organization and chromosomal assignment of the rat gene and characterization of its promoter

1998 ◽  
Vol 334 (3) ◽  
pp. 565-569 ◽  
Author(s):  
Mojgan RASTEGAR ◽  
Claude SZPIRER ◽  
Guy G. ROUSSEAU ◽  
Frédéric P. LEMAIGRE
Keyword(s):  
Amino Acids ◽  
Dna Binding ◽  
Transcription Initiation ◽  
Initiation Site ◽  
Transcription Initiation Site ◽  
Chromosomal Assignment ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Specific Expression ◽  
Exon 2

Hepatocyte nuclear factor 6 (HNF-6) is the prototype of a family of tissue-specific transcription factors characterized by a bipartite DNA-binding domain consisting of a single cut domain and a novel type of homeodomain. We have previously cloned rat cDNA species coding for two isoforms, HNF-6α (465 residues) and β (491 residues), which differ only by the length of the spacer between the two DNA-binding domains. We have now localized the rat Hnf6 gene to chromosome 8q24–q31 by Southern blotting of DNA from somatic cell hybrids and by fluorescence in situhybridization. Cloning and sequencing of the rat gene showed that the two HNF-6 isoforms are generated by alternative splicing of three exons that are more than 10 kb apart from each other. Exon 1 codes for the N-terminal part and the cut domain, exon 2 codes for the 26 HNF-6β-specific amino acids, and exon 3 codes for the homeodomain and the C-terminal amino acids. The transcription initiation site was mapped by ribonuclease protection and 5´ rapid amplification of cDNA ends. Transfection experiments showed that promoter activity was contained within 0.75 kb upstream of the transcription initiation site. This activity was detected by the transfection of liver-derived HepG2 cells, but not of Rat-1 fibroblasts, suggesting that the promoter is sufficient to confer liver-specific expression.

Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Elpis-Athina Vlachopapadopoulou ◽  
Eirini Dikaiakou ◽  
Anatoli Fotiadou ◽  
Popi Sifianou ◽  
Elizabeth Barbara Tatsi ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Congenital Hyperinsulinism ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Hypoketotic Hypoglycaemia ◽  
History Of ◽  
Neonates And Infants ◽  
Diabetic Mothers

AbstractObjectivesCongenital Hyperinsulinism (CHI) is the most common cause of persistent hypoketotic hypoglycaemia in neonates and infants. It is a genetic disorder with both familial and sporadic forms.Case PresentationIn this study, we examined two unrelated infants of diabetic mothers (IDMs) presented with HH. DNA sequencing (Sanger and NGS panel) identified pathogenic variants of the Hepatocyte Nuclear Factor 4A (HNF4A) gene in both families. Pathogenic variants of HNF4A gene are reported to cause HH in the newborn period and Maturity Onset Diabetes of the Young (MODY) later in life. The diagnosis of MODY was made in retrospect for the two mothers, thus improving the management of their diabetes.ConclusionGenetic testing for CHI is strongly recommended if neonatal hypoglycemia persists. A family history of MODY or presumed type II diabetes can support that the affected gene is HNF4A.

scholarly journals Hepatocyte nuclear factor-1α regulates glucocorticoid receptor expression to control postnatal body growth

2008 ◽  
Vol 295 (3) ◽  
pp. G542-G551 ◽  
Author(s):  
Wan-Yi Lin ◽  
Yu-Jie Hu ◽  
Ying-Hue Lee
Keyword(s):  
Glucocorticoid Receptor ◽  
Growth And Development ◽  
Regulatory Element ◽  
Body Growth ◽  
Receptor Expression ◽  
Large Set ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Exon 2 ◽  
Hepatocyte Nuclear Factor 1Α

Hepatocyte nuclear factor 1α (HNF-1α) is a homeodomain-containing transcription factor and is important in postnatal growth and development in mice. In the HNF-1α-deficient liver, the expressions of a large set of growth hormone (GH)-responsive genes were significantly downregulated. By analyzing various HNF-1α mutant mice, we disclosed a mechanism by which hepatic HNF-1α regulates the expression of GH-responsive genes that are crucial for growth and development. We found that HNF-1α is required for the normal expression of glucocorticoid receptor (GR) specifically in livers. In the liver, GR, together with STAT5, is known to mediate the GH action by transactivating the GH-responsive genes that function in body growth and development. We further demonstrated that HNF-1α modulated GR gene expression by directly transactivating the GR gene promoter via a cryptic regulatory element located 3 bp upstream of the translation start site in exon 2 of the GR gene locus.

Hepatocyte nuclear factor-1 α inactivated hepatocellular adenomas in patient with congenital absence of the portal vein: A case report

2013 ◽  
Vol 63 (7) ◽  
pp. 358-363 ◽  
Author(s):  
Yoko Tateishi ◽  
Mitsuko Furuya ◽  
Fukuo Kondo ◽  
Ikuo Torii ◽  
Kazunori Nojiri ◽  
...  
Keyword(s):  
Case Report ◽  
Portal Vein ◽  
Congenital Absence ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Nuclear Factor 1 ◽  
Hepatocellular Adenomas
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