Variants in the gene DNA2 causes Rothmund-Thomson syndrome-like presentation

Rothmund-Thomson syndrome is a rare genetic disorder caused by variants in both copies of ANAPC1 or RECQL4 genes. We report on six Brazilian individuals and two siblings of Swiss/Portuguese ancestry who presented severe short stature, poikiloderma and congenital ocular anomalies. Genomic analysis revealed that all patients harbored variants in both copies of DNA2, one variant, of probable Portuguese ancestry, common to all the individuals. DNA2 has been previously associated with a severe short stature condition. This report broadens the clinical findings associated to DNA2, similar to the ones observed in Rothmund-Thomson syndrome. (By Dr. Debora Romeo Bertola, https://jmg.bmj.com/content/early/2023/04/12/jmg-2022-109119 )

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