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Öğe Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene(Taylor & Francis Inc, 2021) Dogan, Mustafa; Eroz, Recep; Ozturk, EmrahPurpose: The current study aims to raise awareness of Boucher - Neuhauser syndrome (BNHS) that occurs as a rare phenotype due to biallelic pathogenic variants in the PNPLA6 gene. Methods: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family was done by sanger sequencing. Also, review of 28 molecularly confirmed patients with BNHS from the literature was evaluated. Results: We identified a missense homozygous variant (c.3524 C > G (p.Ser1175Cys)) in the PNPLA6 gene, which explains the phenotype of the patient and neurologic, ophthalmologic, endocrine, and genetic evaluations established a diagnosis of BNHS. Symptoms, ethnicity, clinical and genetic findings of 28 molecularly confirmed patients with BNHS from the literature were also presented. Conclusion: We present the main findings of a Turkish family with BNHS together with detailed clinical and genetic profiles of patients diagnosed as BNHS that have been molecularly confirmed in the literature so far.Öğe Clinical and Molecular Findings in a Turkish Family Who Had a (c.869-1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis(Bentham Science Publ Ltd, 2022) Dogan, Mustafa; Eroz, Recep; Tecellioglu, Mehmet; Gezdirici, Alper; Cevik, Betul; Baris, IbrahimBackground: Early-onset Alzheimer's disease (EOAD) is commonly diagnosed with an onset age of earlier than 65 years and accounts for 5-10% of all Alzheimer's disease (AD) cases. To date, although only 10-15% of familial EOAD cases have been explained, the genetic cause of the vast proportion of cases has not been explained. The variant Alzheimer's disease with spastic paraparesis (varAD) is defined as a rare clinical entity characterized by early-onset dementia, spasticity of the lower extremities, and gait disturbance. Although the disease was first associated with variants in exon 9 of the PSEN1 gene, it was later shown that variations in other exons were also responsible for the disease. Objective: The current study aims to raise awareness of varAD, which occurs as a rare phenotype due to pathogenic variants in PSEN1. In addition, we aimed to evaluate the spectrum of mutations in varAD patients identified to date. Methods: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family was done by Sanger sequencing. Also, a review of the molecularly confirmed patients with (varAD) from the literature was evaluated. Results: We identified a heterozygous splicing variant (c.869-1G>A) in the PSEN1 gene, in a family with two affected individuals who present with varAD. We reported the clinical and genetic findings from the affected individuals. Conclusion: We present the detailed clinical and genetic profiles of a Turkish patient with the diagnosis of varAD together with subjects from the literature. Together, we think that the clinical characteristics and the effect of the (c.869-1G>A) variant will facilitate our understanding of the PSEN1 gene in AD pathogenesis.Öğe An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants(Springernature, 2021) Gezdirici, Alper; Terali, Kerem; Gulec, Elif Yilmaz; Bornaun, Helen; Dogan, Mustafa; Eroz, RecepMarfan syndrome (MFS) is an autosomal dominant genetic condition that mainly affects connective tissue in many parts of the body. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. The diagnosis of MFS relies on the revised Ghent criteria, outlined by international expert opinion to facilitate accurate recognition of this syndrome as well as to improve patient management and counseling. However, it may not always be possible to make a definitive diagnosis according to these criteria in each patient and thus molecular confirmation is necessary in subjects with suspected MFS. This debilitating, if not fatal, disorder is caused by mutations in FBN1, which encodes a major constitutive element of extracellular microfibrils. Here, we present a detailed clinical and molecular analysis of 76 Turkish patients with definitive or suspected MFS diagnosed at our center between 2014 and 2019. We were able to identify a total of 51 different FBN1 variants in our cohort, 31 of which have previously been reported in the relevant scientific literature. The remaining 20 variants have not been documented to date. In one patient, we detected a large deletion including the entire FBN1 gene using the array CGH approach. Currently, there are very few studies on the genotype-phenotype correlation of patients with MFS, and no clear genotype-phenotype maps for MFS have been constructed so far, except for some cases. We believe that our findings will make a rich and peculiar contribution to the elusive genotype-phenotype relationship in MFS, especially in this large and populous ethnic group.Öğe The relationship between phenotypical findings and different karyotypes in children with turner syndrome(2021) Bolu, Semih; Eroz, Recep; Arslanoglu, Ilknur; Dogan, MustafaAim: Turner syndrome (TS) is the most common chromosomal disorder in girls. Several systems can be adversely affected in association with genetic disorders. The purpose of this study was to examine the karyotype distribution in patients with TS, frequently seen clinical characteristics, and their relations with the karyotypes.Materials and Methods: Fifty-four cases ranging in age between two and 40 years and diagnosed with TS at three different centers in Turkey between May 2013 and June 2019 were evaluated retrospectively. Results: The patients’ mean age was 17.5±9.3 years. The most common chromosomal anomaly was 45,X (35.2%), followed by low-level mosaic (20.4%), isochromosome (18.5%), deletion (9.3%) and other chromosomal disorders (16.7%). The most common presentation symptom was short stature (66.6%), followed by infertility (12.9%). Cardiovascular pathology was determined in 33.3% of cases, hypothyroidism in 25.9%, ophthalmological problems in 24.1%, renal anomaly in 18.5%, hearing loss in 12.9%, and scoliosis in 9.3% and mental retardation in 16.6%. Obesity was present in 33.3% of cases.Conclusion: Turner Syndrome is a chromosomal disorder affecting several systems. Clinical manifestations in patients with TS can be affected to varying degrees depending on the karyotype.
