Molecular syndromology · 2025
Clinical and Molecular Evaluation of Beckwith-Wiedemann Syndrome with the BWSICS Score.
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Çetinkaya Duygu, Altan Mustafa, Kılıç Esra
Аннотация
INTRODUCTION: Beckwith-Wiedemann syndrome (BWS, MIM#130650) is an overgrowth syndrome characterized by macroglossia, omphalocele, macrosomia, and a predisposition to neoplasia. The etiology of BWS involves genetic and epigenetic alterations in the 11p15 region of the genome. In this study, we investigated how the International Consensus Clinical Scoring System (BWSICS) score can be used in clinical and molecular evaluations and examined its contribution to diagnostic processes.
METHODS: This retrospective study included BWS patients who have been followed up in the pediatric genetics clinic of a center in the last 10 years. Clinical and molecular outcomes including chromosome analysis, microarray analysis, and MS-MLPA testing were evaluated. BWSICS scores were calculated for each patient based on their clinical symptoms.
RESULTS: The study evaluated 18 patients who met BWS diagnostic criteria aged between 1 day and 10 years. The main presentations were macroglossia in 4 patients, omphalocele with macroglossia in 5 patients, and hypoglycemia in 2 patients and all but 1 patient was macrosomia. Significant congenital malformations included omphalocele and visceromegaly in 5 patients each. Hepatoblastoma was observed in 1 patient and 1 patient died due to sepsis. Two patients had autism spectrum disorder while the others had normal neuromotor development. According to the BWSICS, patients' scores ranged from 5 to 11. Molecular analysis revealed methylation alterations in 13/16 patients.
CONCLUSION: This study examined the effectiveness of the BWSICS score in the diagnosis and follow-up of BWS in combination with clinical and molecular evaluation. This score provides a broad assessment in the diagnosis of BWS and can be considered as an important tool in clinical practice.
METHODS: This retrospective study included BWS patients who have been followed up in the pediatric genetics clinic of a center in the last 10 years. Clinical and molecular outcomes including chromosome analysis, microarray analysis, and MS-MLPA testing were evaluated. BWSICS scores were calculated for each patient based on their clinical symptoms.
RESULTS: The study evaluated 18 patients who met BWS diagnostic criteria aged between 1 day and 10 years. The main presentations were macroglossia in 4 patients, omphalocele with macroglossia in 5 patients, and hypoglycemia in 2 patients and all but 1 patient was macrosomia. Significant congenital malformations included omphalocele and visceromegaly in 5 patients each. Hepatoblastoma was observed in 1 patient and 1 patient died due to sepsis. Two patients had autism spectrum disorder while the others had normal neuromotor development. According to the BWSICS, patients' scores ranged from 5 to 11. Molecular analysis revealed methylation alterations in 13/16 patients.
CONCLUSION: This study examined the effectiveness of the BWSICS score in the diagnosis and follow-up of BWS in combination with clinical and molecular evaluation. This score provides a broad assessment in the diagnosis of BWS and can be considered as an important tool in clinical practice.