Article ; Online: Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.
Orphanet journal of rare diseases
2024 Volume 19, Issue 1, Page(s) 167
Abstract: The report covers the current and past activities of the department Molecular Genetics-Function and Therapy (MGFT) at the Cyprus Institute of Neurology and Genetics (CING), an affiliated Reference Center for the European Reference Network on Rare ... ...
| Abstract | The report covers the current and past activities of the department Molecular Genetics-Function and Therapy (MGFT) at the Cyprus Institute of Neurology and Genetics (CING), an affiliated Reference Center for the European Reference Network on Rare Endocrine Conditions (Endo-ERN).The presented data is the outcome of > 15 years long standing collaboration between MGFT and endocrine specialists from the local government hospitals and the private sector. Up-to-date > 2000 genetic tests have been performed for the diagnosis of inherited rare endocrine disorders. The major clinical entities included Congenital Adrenal Hyperplasia (CAH) due to pathogenic variants in CYP21A2 gene and Multiple Endocrine Neoplasia (MEN) type 2 due to pathogenic variants in the RET proto-oncogene. Other rare and novel pathogenic variants in ANOS1, WDR11, FGFR1, RNF216, and CHD7 genes were also found in patients with Congenital Hypogonadotropic Hypogonadism. Interestingly, a few patients with Disorders of Sexual Differentiation (DSD) shared rare pathogenic variants in the SRD5A2, HSD17B3 and HSD3B2 while patients with Glucose and Insulin Homeostasis carried theirs in GCK and HNF1A genes. Lastly, MGFT over the last few years has established an esteemed diagnostic and research program on premature puberty with emphasis on the implication of MKRN3 gene on the onset of the disease and the identification of other prognosis biomarkers.As an Endo-ERN member MGFT department belongs to this large European network and holds the same humanistic ideals which aim toward the improvements of health care for patients with rare endocrine conditions in respect to improved and faster diagnosis. |
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| MeSH term(s) | Humans ; Cyprus ; Multiple Endocrine Neoplasia Type 2a/diagnosis ; Multiple Endocrine Neoplasia Type 2a/genetics ; Endocrine System Diseases/diagnosis ; Endocrine System Diseases/genetics ; Adrenal Hyperplasia, Congenital/diagnosis ; Adrenal Hyperplasia, Congenital/genetics ; Genetic Testing ; Ubiquitin-Protein Ligases ; Steroid 21-Hydroxylase/genetics ; Membrane Proteins/genetics ; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase |
| Chemical Substances | RNF216 protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27) ; MKRN3 protein, human (EC 2.3.2.27) ; CYP21A2 protein, human (EC 1.14.14.16) ; Steroid 21-Hydroxylase (EC 1.14.14.16) ; SRD5A2 protein, human (EC 1.3.99.5) ; Membrane Proteins ; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase (EC 1.3.99.5) |
| Language | English |
| Publishing date | 2024-04-18 |
| Publishing country | England |
| Document type | Journal Article |
| ZDB-ID | 2225857-7 |
| ISSN | 1750-1172 ; 1750-1172 |
| ISSN (online) | 1750-1172 |
| ISSN | 1750-1172 |
| DOI | 10.1186/s13023-024-03171-4 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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