Patients with a Wide Range of Disorders Related to Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.

-spectrum disorders are caused by a mutation in the gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the gene, such as Wolfram-like syndrome, low-frequency sensorineural hearing loss (LFSNHL), isolated diabetes mellitus (DM), nonsyndromic optic atrophy (OA), and isolated congenital cataracts. The aim of this study was to evaluate genotype-phenotype correlations in Polish patients with -spectrum disorders.

Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients.

Purpose: Monogenic diabetes (MD) is caused by a mutation in a single gene and accounts for approximately 2.5-6% of all diabetes cases. Maturity-onset diabetes of the young (MODY) is the most common form of MD.

Screening for Rare Mitochondrial Genome Variants Reveals a Potentially Novel Association between and Genes and Diabetes Phenotype.

Variations in several nuclear genes predisposing humans to the development of MODY diabetes have been very well characterized by modern genetic diagnostics. However, recent reports indicate that variants in the mtDNA genome may also be associated with the diabetic phenotype. As relatively little research has addressed the entire mitochondrial genome in this regard, the aim of the present study is to evaluate the genetic variations present in mtDNA among individuals susceptible to MODY diabetes.

Wolfram-like syndrome - another face of a rare disease in children.

Objectives: The presence of two pathogenic variants in the gene leads to the occurrence of a rare genetic disease in children - Wolfram syndrome (WFS), which includes insulin-dependent diabetes mellitus (DM), optic atrophy (OA), diabetes insipidus (DI), and deafness (D). However, the presence of a single mutation in the gene results in a number of other autosomal dominant inherited diseases, including Wolfram-like syndrome (WFS-like).

Case Presentation: A 10-year-old boy was referred to the Genetic Outpatient Clinic with suspected WFS based on the coexistence of D, type 1 DM, short stature, and abnormalities in ophthalmologic examination (astigmatism and OA due to the optical coherence tomography result).

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing.

Aims: Maturity-onset diabetes of the young (MODY) is one of the rare monogenic forms of diabetes. To date, about 12 genes in the scientific literature are closely related to the occurrence of the disease phenotype. However, there is still a high prevalence of undiagnosed cases of so-called MODY-X whose genetic background is still unknown.

Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessively inherited disease with major clinical symptoms such as: obesity, retinal degeneration, polydactyly and renal abnormalities. The aim of the study was to assess the spectrum of gene variants among patients with BBS, identified on the basis of nationwide genetic studies of monogenic diabetes in Polish population. Out of 575 patients enrolled for genetic testing from February 2017 to July 2019, 25 patients with a clinical suspicion of BBS were selected.

Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage.

Introduction: Recurrent miscarriage is a serious clinical problem that affects 1-5 % of all couples trying to conceive. Although the incidence of Smith-Lemli-Opitz Syndrome (SLOS, OMIM #270400), an autosomal recessive condition caused by variants in the DHCR7 gene, is very low, (1:83 000), the observed carrier frequency of DHCR7 gene variants in the Polish population is high, ranging from 1:24 to 1:31. It is possible that this carriage may be responsible for early pregnancy loss.