Akademik Veri Yönetim Sistemi
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, cilt.85, sa.4, ss.501-510, 2022 (Scopus)
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 a 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 Faculty of Medicine, 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 the
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)) 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
in a Turkish case contributed to the genetic association of this
pathogenic variant with Roberts syndrome Although all the
previously reported patients were homozygous, we have detected two patients with compound heterozygous pathogenic
alterations from Turkiye indicating that the disease.