TY - JOUR TI - Evaluation of Clinical and Molecular Findings in a Group of Turkish Individuals with Marfan Syndrome AB - Objective: This study aimed to review the clinical and molecular findings of 12 individuals with Marfan syndrome (MS) to identify novel mutations and associated clinical findings. Method: This study included 12 patients who were diagnosed with MS between January 2018 and January 2021 in a teaching and research hospital in Turkey. The patient files were retrospectively analyzed. A single clinical geneticist evaluated all of the patients. FBN1 sequencing was performed in all patients. Results: There were five male and seven female patients. Four of the patients did not meet the MS clinical diagnostic criteria before the molecular analysis. Most of the patients (67%) were referred due to the aortic dilatation; however, none of the patients had aortic aneurysms/dissections. Skeletal findings and MS-related facial features were present in all of the patients. Ectopia lentis was not detected. Only one patient had a history of pneumothorax. Twelve diverse variants were detected in 12 patients. Of these, ten were classified as pathogenic and two as likely pathogenic, and three were novel and nine were previously reported. There were five nonsense (42%), four frameshift (33%), and three missense (25%) variants. FBN1 variants were distributed within the gene without any hot spots. EGF-like domain was the most commonly affected protein domain. Conclusion: Elucidating the underlying molecular pathology in MS contributes to expanding the phenotype-genotype correlation in the disease and early diagnosis. Our study has broadened the genotypic and phenotypic spectrum of MS in Turkey by describing the clinical findings of 12 patients and reporting three novel variants. AU - Akgun-Dogan, Ozlem AU - Agaoglu, Nihat Bugra DO - 10.14744/iksstd.2021.08860 PY - 2022 JO - İstanbul Kanuni Sultan Süleyman Tıp Dergisi VL - 14 IS - 1 SN - 2148-273X SP - 8 EP - 17 DB - TRDizin UR - http://search/yayin/detay/525306 ER -