Clinical Genetic Approach to De Novo Changes Identified in Array-CGH Analysis

Objective: In this study, it is planned to work with fluorescent in situ hybridization (FISH), quantitative polymerase chain reaction (Real-Time qPCR) or with another a-CGH platform to verify genomic imbalances detected in a-CGH examination. It is aimed to determine whether the change is clinically relevant, so that genotype-phenotype relationship can be established and contribute effective genetic counseling

INTER-POPULATION COMPARISONS AND THE IMPORTANCE IN INFECTIOUS DISEASES OF THE IRF7, TBK1, IFNAR1, IFNAR2 AND TLR3 GENE VARIANTS IN TURKISH INDIVIDUALS

Objective: In the research conducted during the pandemic period, it has been determined that IRF7, TBK1, IFNAR1, IFNAR2, and TLR3 immunity genes play an important role in the predisposition to SARS-CoV-2 infection. However, there is no information about variants of these genes in the Turkish population. The aim of this study was to determine the variants specific to the our study's population in these genes that predispose to infections and to compare them with other populations

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

Background: Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue-limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p

Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic mutations in GALNS gene and characterized by progressive skeletal deformities with short stature. The aim of this study was to evaluate the genotype, longitudinal height measurement and clinical features of MPS IVA patients. Thirty-two patients from 22 families were enrolled. The ages of patients at diagnosis ranged from two months to 18 years of age, and followed up for three to twenty years. They were classified as severe and attenuated form (intermediate and mild) according to their height measurements. The mean height standard deviation scores (SDS) for Turkish standards at 0-3, 5 and 10 years of ages were found to be -1.1, -4.2 and -7.3 respectively in patients with severe phenotype, while they were +0.4, -1.5 and -3 for intermediate phenotype. Patients with severe form reached a mean final height of -8.5 SDS, and mild phenotype -3.6 SDS. The most common initial and current symptoms in the patients with the severe phenotype were pectus carinatus and/or kyphosis deformities which occurred between 5 months and 3 years of age, and genu valgum deformity which developed after 3 years of age. However, kyphoscoliosis was the most common initial and current findings in the attenuated phenotype. Although, initial symptoms appeared in early childhood in the intermediate phenotype, similar to the severe phenotype, the clinical findings progressed slowly and genu valgum deformity did not develop. In patients with mild phenotype, the onset of symptoms was after 5 years of age. In conclusion, this study provides significant insights into the initial and follow-up clinical features and height values that contribute to the differential diagnosis of the severe and intermediate phenotypes in early childhood. Eleven mutations in GALNS gene in which one of them is novel (c.416G > A) were associated with the severe phenotype and three mutations (c.1038C > A, c.850T > G, c.752G > A) lead to the attenuated phenotype

APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE

Objective/Material and Method: Cryptic chromosomal imbalances contribute significantly to the etiology of multiple congenital anomalies with or without mental retardation (MCA/MR). Current approaches in prenatal diagnosis include targeted high resolution analyses by MLPA and some microarray platforms or a genomewide screening at maximal resolution using oligonucleotide or SNP arrays. The major disadvantages of the latter approach are cost and the inadvertent detection of copy number variation of unknown clinical significance

CLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS

Objective: Radial ray defects (RRDs) are the most common congenital abnormality of the upper extremities, with a prevalence of 1:30,000. 70% of RRDs are syndromic or accompanied by additional malformations, whereas 30% are in isolated form. Definitive diagnosis is critical for follow-up and provides an opportunity for prenatal diagnosis. The aim of this study was to provide a guide for the differential diagnosis of patients with RRD via contributing to their molecular diagnosis by constructing a next-generation sequencing (NGS) gene-panel test

MOLECULAR ANALYSIS OF FGFR1-3, TWIST1, MSX2, POR, FREM1 AND RAB23 GENES IN SYNDROMIC AND NON-SYNDROMIC CRANIOSYNOSTOSIS CASES

Objective: Craniosynostosis (CS) associated genes (FGFR1-3, TWIST1, MSX2, POR, FREM1 and RAB23) were investigated in order to determine the mutation rates and establish an effective flow chart for molecular genetic diagnosis for syndromic (SCS) and non-syndromic craniosynostosis (NSCS)