A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype

Genetic illnesses can be passed down from parents to children through markers in their DNA. Some diseases, such as Silver-Russel Syndrome (SRS), also depend on what parent you are inheriting this marker from. For example, inheriting the marker from your mother might be harmless but inheriting it from your father could cause disease. This is a process known as epigenetic imprinting. This study describes an individual with the same symptoms as SRS without the typical DNA markers expected in an SRS case. We show that a diagnosis of SRS should be considered for people with the marker we have identified. (By Dr. Eric Allain, https://jmg.bmj.com/content/early/2022/04/06/jmedgenet-2021-108288)

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