Silver-Russell Sendromu Bulunan Hastalarda Epigenotip ve Fenotip İlişkisinin Araştırılması

Abstract

Silver-Russell Syndrome (SRS) is a heterogenous disease in terms of clinical and genetic features, characterised by intrauterine and postnatal growth restriction, poor postnatal growth, relative macrocephaly, triangular face, asymmetry and feeding difficulties. SRS is a relatively 'young' imprinting disorder compared to Prader-Willi and Angelman disorders. As many of these wide range of the features are non-specific and clinical severity is highly variable, clinical diagnosis of SRS remains difficult and frequency is not known exactly. Pediatricians could face this syndrome during their medical practice. The diagnosis is likely to be skipped due to these characteristics, so knowledge and experience is necessary about SRS. Various previous investigations showed that heterogeneous molecular etiology may contribute to clinical variability and epigenotype-phenotype correlation exists in SRS. This study was performed to detect the molecular etiology in our patients with SRS, in order to search for epigenotype-phenotype correlation and to provide appropriate individualized multidisciplinary approach. The epigenotype was determined using MS-MLPA for copy number and methylation status of 11p15 and 24 patients were evaluated for epigenotype-phenotype correlations. Different molecular etiology groups were evaluated for prematurity, conception with assisted reproductive techniques, low birth weight, low postnatal weight, short stature, relative macrocephaly, excessive sweating, different facial characteristics, skeletal anomalies, feeding difficulties, fifth finger clinodactyly, other congenital anomalies, developmental delay and consanguinity between parents. Differences between groups were not statistically significant owing to the small number of patients in individual groups. All patients clinically suggestive of SRS should be followed-up in a multidisciplinary approach for all possible manifestations of the disorder.