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Genetics and Genomics in Hereditary Endocrine Disorders
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Genetics and Genomics in Hereditary Endocrine Disorders

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (15 September 2021) | Viewed by 16878

Special Issue Editors

Prof. Dr. Katarzyna Ziemnicka

E-Mail Website
Guest Editor
Molecular Endocrinology Laboratotory, Chair and Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49th Przybyszewskiego Str., 60-355 Poznan, Poland
Interests: molecular endocrinology; pituitary; receptors; next generation sequencing; microarrays
Dr. Bartlomiej Budny

E-Mail Website
Guest Editor
Molecular Endocrinology Laboratory, Chair and Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 61-701 Poznań, Poland
Interests: molecular biology; sequencing; high throughput techniqes; microarrays; bioinformatics

Special Issue Information

Dear Colleagues,

Over the last few years, elucidation of causes of hereditary endocrine disorders has been improved considerably. A broad implementation of molecular biology techniques has shed a new light into their etiology, revealing also a much more complex genetic background than we suspected. The research data obtained using high throughput methods help not only in understanding the disease etiology but have also become a promising and powerful tool in diagnostics and prognostics of various endocrine disorders. These data also serve as solid evidence for designing and optimizing new therapeutic strategies. On the other hand, reported markers can explain only a minor part of the observed clinical variability in therapeutic outcomes. A substantial amount of disease-relevant knowledge collected through the joint efforts of the scientific community requires a comprehensive follow-up, because its uptake in the clinical practice is still limited. Thus, there is an unmet necessity to translate genomic and functional molecular data into stratified treatment and diagnostic approaches. This task represents an ultimate goal for modern endocrinology and precision medicine to tie the patient’s molecular profile with efficient clinical intervention.

The Special Issue aims at identifying the molecular causes of congenital endocrinopathies, focusing in particular on their constitutional genetic background and its consequences in gene expression. We welcome reviews, perspectives, new methods, and original research papers that will focus on the most recent and significant advances and draw new research frontiers in endocrinology. Genetic studies from diverse human populations, as well as reporting of relevant functional genomics are desired.

Prof. Dr. Katarzyna Ziemnicka
Dr. Bartlomiej Budny
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Genetics
  • Genomics
  • Congenital
  • Endocrinopathies
  • High throughput
  • Sequencing

Published Papers (5 papers)

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Research

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16 pages, 1081 KiB  
Article
Hyperinsulinemic Hypoglycemia in Three Generations of a Family with Glucokinase Activating Mutation, c.295T>C (p.Trp99Arg)
by Aleksandra Gilis-Januszewska, Anna Bogusławska, Artur Kowalik, Ewelina Rzepka, Karolina Soczówka, Elwira Przybylik-Mazurek, Bogusław Głowa and Alicja Hubalewska-Dydejczyk
Genes 2021, 12(10), 1566; https://doi.org/10.3390/genes12101566 - 01 Oct 2021
Cited by 3 | Viewed by 2681
Abstract
Familial Hyperinsulinemic Hypoglycemia (FHH) is a very rare disease with heterogeneous clinical manifestations. There are only a few reports of heterozygous activating mutations of glucokinase (GCK) attributable to FHH, with no reports describing effects in the course in pregnancy with affected [...] Read more.
Familial Hyperinsulinemic Hypoglycemia (FHH) is a very rare disease with heterogeneous clinical manifestations. There are only a few reports of heterozygous activating mutations of glucokinase (GCK) attributable to FHH, with no reports describing effects in the course in pregnancy with affected mother/affected child. A large kindred with FHH and GCK:c.295T>C (p.Trp99Arg) pathogenic variant was identified in which four family members from three generations were affected. The clinical follow up in one clinical center lasted up to 30 years, with different times of diagnosis ranging from neonate period to adulthood. The severity of hypoglycemia was mild/severe and fasting was the trigger for hypoglycemia. Response to diazoxide varied from good, in the neonate, to moderate/poor, in childhood/adulthood; however, this was biased by poor compliance. Treatment with somatostatin analogues was discontinued due to side effects. Over time, patients developed clinical adaptation to very low glucose levels. During pregnancy, episodes of severe hypoglycemia in the first trimester were observed, which responded very well to steroids. The clinical course of the GCK:c.295T>C (p.Trp99Arg) mutation varied in the same family, with the development of clinical adaptation to very low glucose levels over time. Treatment with steroids might prevent hypoglycemia during pregnancy in an affected mother. Full article
(This article belongs to the Special Issue Genetics and Genomics in Hereditary Endocrine Disorders)
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18 pages, 1227 KiB  
Article
Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome
by Małgorzata Kałużna, Bartłomiej Budny, Michał Rabijewski, Jarosław Kałużny, Agnieszka Dubiel, Małgorzata Trofimiuk-Müldner, Elżbieta Wrotkowska, Alicja Hubalewska-Dydejczyk, Marek Ruchała and Katarzyna Ziemnicka
Genes 2021, 12(6), 868; https://doi.org/10.3390/genes12060868 - 05 Jun 2021
Cited by 5 | Viewed by 2748
Abstract
Kallmann syndrome (KS) is a combination of isolated hypogonadotropic hypogonadism (IHH) with olfactory dysfunction, representing a heterogeneous disorder with a broad phenotypic spectrum. The genetic background of KS has not yet been fully established. This study was conducted on 46 Polish KS subjects [...] Read more.
Kallmann syndrome (KS) is a combination of isolated hypogonadotropic hypogonadism (IHH) with olfactory dysfunction, representing a heterogeneous disorder with a broad phenotypic spectrum. The genetic background of KS has not yet been fully established. This study was conducted on 46 Polish KS subjects (41 males, 5 females; average age: 29 years old). The studied KS patients were screened for defects in a 38-gene panel with next-generation sequencing (NGS) technology. The analysis revealed 27 pathogenic and likely pathogenic (P/LP) variants, and 21 variants of uncertain significance (VUS). The P/LP variants were detected in 20 patients (43.5%). The prevalence of oligogenic P/LP defects in selected genes among KS patients was 26% (12/46), whereas the co-occurrence of other variants was detected in 43% (20 probands). The examined KS patients showed substantial genotypic and phenotypic variability. A marked difference in non-reproductive phenotypes, involving defects in genes responsible for GnRH neuron development/migration and genes contributing to pituitary development and signaling, was observed. A comprehensive gene panel for IHH testing enabled the detection of clinically relevant variants in the majority of KS patients, which makes targeted NGS an effective molecular tool. The significance of oligogenicity and the high incidence of alterations in selected genes should be further elucidated. Full article
(This article belongs to the Special Issue Genetics and Genomics in Hereditary Endocrine Disorders)
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9 pages, 599 KiB  
Article
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database
by Kyung-Sun Park
Genes 2021, 12(6), 863; https://doi.org/10.3390/genes12060863 - 04 Jun 2021
Cited by 8 | Viewed by 3030
Abstract
To assess how genomic information of the general population reflects probabilities of developing diseases and the differences in those probabilities among ethnic groups, a general population database was analyzed with an example of congenital hypothyroidism. Twelve candidate genes that follow an autosomal recessive [...] Read more.
To assess how genomic information of the general population reflects probabilities of developing diseases and the differences in those probabilities among ethnic groups, a general population database was analyzed with an example of congenital hypothyroidism. Twelve candidate genes that follow an autosomal recessive inheritance pattern in congenital hypothyroidism (SLC5A5, TPO, TG, IYD, DUOXA2, DUOX2, TSHR, SLC26A7, GLIS3, FOXE1, TSHB, TRHR) in the gnomAD database (v2.1.1) were analyzed. The carrier frequency (CF) and predicted genetic prevalence (pGP) were estimated. The total CF in the overall population was 3.6%. DUOX2 showed the highest CF (1.8%), followed by TG (0.46%), TPO (0.44%), TSHR (0.31%), SLC26A7 (0.144%), DUOXA2 (0.141%), IYD (0.08%), SLC5A5 (0.06%), TRHR (0.059%), GLIS3 (0.059%), TSHB (0.04%), and FOXE1 (0%). The pGP in the overall population was 10.01 individuals per 100,000 births (1:9992). The highest pGP was in the East Asian population at 52.48 per 100,000 births (1:1905), followed by Finnish (35.96), Non-Finnish European (9.56), African/African American (4.0), Latino/Admixed American (3.89), South Asian (3.56), and Ashkenazi Jewish (1.81) groups. Comparing the pGP with the real incidence of congenital hypothyroidism, the pGP in East Asian populations was highly consistent with the real incidence. Full article
(This article belongs to the Special Issue Genetics and Genomics in Hereditary Endocrine Disorders)
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12 pages, 1712 KiB  
Article
Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family
by Aleksandra Gilis-Januszewska, Anna Bogusławska, Kornelia Hasse-Lazar, Beata Jurecka-Lubieniecka, Barbara Jarząb, Anna Sowa-Staszczak, Marta Opalińska, Magdalena Godlewska, Anna Grochowska, Anna Skalniak and Alicja Hubalewska-Dydejczyk
Genes 2021, 12(4), 512; https://doi.org/10.3390/genes12040512 - 31 Mar 2021
Cited by 4 | Viewed by 2506
Abstract
Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, even [...] Read more.
Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, even between affected members within the same family. We describe a heterogenic phenotype of the MEN1 variant c.781C>T (LRG_509t1), which was previously reported only once in a family with isolated hyperparathyroidism. A heterozygous missense variant in exon 4 of the gene was identified in the sequence of the MEN1 gene, i.e., c.781C>T, leading to the amino acid change p.Leu261Phe in a three-generation family. In the screened family, 5/6 affected members had already developed hyperparathyroidism. In the index patient and two other family members, an aggressive course of pancreatic neuroendocrine tumor (insulinoma and non-functioning neuroendocrine tumors) with dissemination was diagnosed. In the index patient, late diagnosis and slow progression of the disseminated neuroendocrine tumor have been observed (24 years of follow-up). The very rare variant of MEN1, LRG_509t1 c.781C>T /p.Leu261Phe (LRG_509p1), diagnosed within a three-generation family has a heterogenic clinical presentation. Further follow-up of the family members should be carried out to confirm the spectrum and exact time of clinical presentation. Full article
(This article belongs to the Special Issue Genetics and Genomics in Hereditary Endocrine Disorders)
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Review

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19 pages, 862 KiB  
Review
A Review on CYP11A1, CYP17A1, and CYP19A1 Polymorphism Studies: Candidate Susceptibility Genes for Polycystic Ovary Syndrome (PCOS) and Infertility
by Roozbeh Heidarzadehpilehrood, Maryam Pirhoushiaran, Rasoul Abdollahzadeh, Malina Binti Osman, Maryam Sakinah, Norshariza Nordin and Habibah Abdul Hamid
Genes 2022, 13(2), 302; https://doi.org/10.3390/genes13020302 - 05 Feb 2022
Cited by 40 | Viewed by 4909
Abstract
Polycystic ovary syndrome is a multifactorial condition associated with reproductive and endocrine organs and might cause infertility and metabolic abnormalities in childbearing age. PCOS seems to be a multifactorial disorder resulting from the combination of several genetic and environmental factors. Little research has [...] Read more.
Polycystic ovary syndrome is a multifactorial condition associated with reproductive and endocrine organs and might cause infertility and metabolic abnormalities in childbearing age. PCOS seems to be a multifactorial disorder resulting from the combination of several genetic and environmental factors. Little research has been conducted to date on the impact of polymorphisms in infertility. We aim to review the appearance of polymorphisms in females of diverse ethnicities and their effect on infertility in the population with polycystic ovary syndrome. There have been numerous reports of the importance of the steroidogenesis pathway and genetic variants in PCOS pathogenesis. The most important genes that play a role in the aetiology of PCOS are CYP11A1, CYP17A1, and CYP19A1. We evaluated the occurrence of polymorphisms in various ethnicities in the CYP11A1, CYP17A1, and CYP19A1 genes and their efficacy on increasing PCOS risk with infertility. Our findings revealed that polymorphisms in various ethnicities are associated with the risk of PCOS with infertility. Although conflicting results regarding CYP11A1, CYP17A1, and CYP19A1 polymorphisms and their influence on PCOS with infertility have been reported in a small number of papers, the authors feel this may be attributable to the sample size and ethnic composition of the examined populations. In conclusion, our study strongly suggests that the CYP11A1, CYP17A1, and CYP19A1 genes might significantly enhance the probability of developing PCOS with infertility. Full article
(This article belongs to the Special Issue Genetics and Genomics in Hereditary Endocrine Disorders)
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