Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome

Ergun, Sezen Guntekin
PERÇİN, Ferda Emriye
Background: Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1. To date, over 1800 different pathogenic variants have been reported.


Novel BRCA2 pathogenic genotype and breast cancer phenotype discordance in monozygotic triplets
Duzkale, Neslihan; EYERCİ, NİLNUR; Oksuzoglu, Berna; Teker, Taner; Kandemir, Olcay (Elsevier BV, 2020-04-01)
BRCA1/2 genes with high-penetrance are tumor suppressor and tumor susceptibility genes that play important roles in the homologous recombination mechanism in DNA repair and increase breast cancer risk. Variants in BRCA1 or BRCA2 are the main causes of familial and early-onset breast cancer. This study investigated pathogenic variant belonging to the BRCA2 gene splice region in monozygotic triplets. A 44-year-old woman was diagnosed with breast cancer when she was 32 years old. Her monozygotic sister had a h...
Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy
Cavdarli, Busranur; Ozturk, Fatma Nihal; Guntekin Ergun, Sezen; ERGÜN, MEHMET ALİ; Dogan, Ozlem; Percin, Emriye Ferda (Mary Ann Liebert Inc, 2020-09-01)
Aim:Spinal muscular atrophy (SMA) is an inherited, autosomal recessive neuromuscular disease that causes high morbidity and mortality. The prevalence is 1-2/100,000, while the incidence is 1/6000-1/10,000 among live births. Due to the high carrier frequency (1/40-1/60) of SMA, screening can prevent new cases. The aim of the current study was to present the development of a new, quantitative, real-time, polymerase chain reaction (PCR)-based screening test that uses an intelligent ratio (IR) for analyses, as ...
Untargeted metabolomics profiling of skeletal muscle samples from malignant hyperthermia susceptible patients
Bojko, Barbara; Vasiljevic, Tijana; Boyacı, Ezel; Roszkowska, Anna; Kraeva, Natalia; Moreno, Carlos A. Ibarra; Koivu, Annabel; Wasowicz, Marcin; Hanna, Amy; Hamilton, Susan; Riazi, Sheila; Pawliszyn, Janusz (Springer Science and Business Media LLC, 2021-01-01)
Purpose Malignant hyperthermia (MH) is a potentially fatal hypermetabolic condition triggered by certain anesthetics and caused by defective calcium homeostasis in skeletal muscle cells. Recent evidence has revealed impairment of various biochemical pathways in MH-susceptible patients in the absence of anesthetics. We hypothesized that clinical differences between MH-susceptible and control individuals are reflected in measurable differences in myoplasmic metabolites. Methods We performed metabolomic profil...
Identification and analysis of genomic regions with large between-population differentiation in humans
Myles, S.; Tang, K.; Somel, Mehmet; Green, R. E.; Kelso, J.; Stoneking, M. (Wiley, 2008-01-01)
The primary aim of genetic association and linkage studies is to identify genetic variants that contribute to phenotypic variation within human populations. Since the overwhelming majority of human genetic variation is found within populations, these methods are expected to be effective and can likely be extrapolated from one human population to another. However, they may lack power in detecting the genetic variants that contribute to phenotypes that differ greatly between human populations. Phenotypes that...
Investigation of the cellular mechanisims underlying the Carboxypeptidase E mutation
Kaşıkçı, Feride; Yanık, Tülin; Department of Biology (2014)
Carboxypeptidase E (CPE) is an enzyme expressed in both endocrine and neuroendocrine cells functioning as both an exopeptidase and a sorting receptor. Recently, it has been reported that CPE plays a role in preventing neuronal cell death in the CA3 hippocampus so as to maintain normal cognitive function in the adult brain. Studies on CPE-knockout mice showed total degeneration of neurons in the CA3 region of the hippocampus in adult mice 4 weeks of age and older. Additionally, increased CPE expression was i...
Citation Formats
G. KAYHAN, M. A. ERGÜN, S. G. Ergun, S. KULA, and F. E. PERÇİN, “Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome,” GENETIC TESTING AND MOLECULAR BIOMARKERS, pp. 474–480, 2018, Accessed: 00, 2020. [Online]. Available: