Author:
Esfahani Mohammad A., ,Eslami Maryam,Memarsadeghi Omeed,Samadaeian Niusha,Savad Shahram, , , ,
Abstract
Background: Silver-Russell Syndrome (SRS) and Beckwith-Wiedemann Syndrome (BWS) are two syndromes that are
poorly diagnosed in many affected people due to mild and subtle symptoms, genetic complexity, and lack of familiarity with the
hallmarks. Objective: The present study was conducted with the aim of determining mutations in H19, IGF2, CDKN1C, KCNQ1,
and NSD1 genes in Iranian children suspected of SRS and BWS by the MS-MLPA method. Methods: In this case series study, which
was conducted in 2022 in Pars Genome Laboratory, Karaj, Iran, 10 children suspected of SRS or BWS syndrome were included.
These 10 Iranian children were referred by pediatric endocrinologists. 5 ml of peripheral blood was taken per patient for DNA
extraction. MS-MLPA method was undertaken for possible mutations (methylation and deletion) in H19, IGF2, CDKN1C, KCNQ1,
and NSD1 genes. Results: The interpretation of MS-MLPA results showed that out of 10 children (4 boys and 6 girls) suspected of
having SRS or BWS syndrome (based on the pediatric endocrinologist’s diagnosis), only 3 children were definitively diagnosed
with SRS or BWS syndrome. Based on this, methylation changes in the promoter of ICR1 and ICR2, which are related to the genes
H19, IGF2, CDKN1C, KCNQ1, and NSD1, lead to the development of SRS or BWS syndrome. Conclusion: The present findings
showed that methylation changes in H19, IGF2, CDKN1C, KCNQ1, and NSD1 genes are associated with the occurrence of SRS or
BWS syndrome. In this study, we show that MS-MLPA can serve as a rapid, inexpensive, and reliable method for the molecular
diagnosis of these syndromes.
Publisher
Asociatia Cadrelor Medicale din Spitalul Universitar de Urgenta Militar Central Dr. Carol Davila
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