Özet:

Objective: Roberts syndrome is a rare autosomal recessive disease characterized by limb defects, prenatal onset growth retardation, and craniofacial anomalies. We aimed to compare the clinical and molecular findings of six cases with Roberts syndrome with the previously reported patients from Turkiye and to emphasize that the definitive diagnosis can be made in the intrauterine period with cytogenetic tests in the early period without the need to wait for molecular test results. Materials and Methods: Six cases, diagnosed with Roberts syndrome, in our outpatient clinic of Istanbul University, Istanbul Medical Faculty, Medical Genetics Department between 2015-2021 were included in the study. The family history, clinical information, and cytogenetic and molecular findings of the patients were retrospectively reviewed and compared with cases reported from Turkiye in the literature. G and C-banding techniques and Sanger sequencing of the ESCO2 gene were performed. Results:Pathogenic variants in homozygous in four and compound heterozygous in two patients in the ESCO2 gene were identified. Compound heterozygous c.[417dup];[1131+1G>A] (p.[(Pro140Thrfs*8)];[(?)]) in case 1, and c.[1111dup];[760del] (p.[(Thr371Asnfs*32)];[(Thr254Leufs*13)]) in case 6, homozygous c.1131+1G>A (p.(?)) in case 2, case 3 and case 5, and homozygous c.1111dup (p.(Thr371Asnfs*32)) mutations in case 4 were detected. The variants reported in our case series were previously associated with the disease. The first demonstration of the c.760del mutation in a Turkish case contributed to the mutation profile in our population that caused this disease. Although all previously reported Turkish patients were homozygous, we have detected two patients with compound heterozygous mutations indicating that the disease should also be considered in families with no consanguinity.