A family with nine siblings showing signs of Rothmund–Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N‐terminal mutation of RECQL4

Abstract

Key Clinical Message This study presents a family with nine children, two of them diagnosed with RTS2 using genetic testing. The other siblings show some of the RTS2 criteria and are suggestive of the syndrome. Such reports help physicians be more alert in dealing with cases of rare syndromes. Timely initiation of genetic counseling and testing once the first child was diagnosed with the syndrome could have prevented the birth of affected siblings by RTS2. Since RTS2 patients could have a severe clinical manifestation as osteosarcoma which probably leads to death at a young age, the importance of genetic testing is even more underlined.

Keywords

• biallelic mutations
• human
• mice
• N‐terminal homozygous frameshift mutation
• RECQL4 gene
• Rothmund–Thomson type II syndrome (RTS2)