Background: Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund- Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome(RA dial hypoplasia/a...Background: Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund- Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome(RA dial hypoplasia/aplasia,PA tellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size[>2 SDs below the mean in height] and Limb malformation, and slender NOse and NOrmal intelligence). While many features of the 2 genetic disorders overlap, poikiloderma- a hallmark of RTS- has been described as generally absent in RAPADILINO syndrome. Observations: We report herein a patient with RTS who carries a truncating mutation and a new lyidentified missense mutation of RECQL4. The proband uniquely developed all criteria of RAPADILINO in addition to his prominent skin findings. Conclusions: Patients with RTS may possess all features of RAPADILINO. Consequently, a genetic approach to RTS and RAPADILINO could be beneficial. This approach may provide a better understanding of the wide variety of related phenotypic findings and improve prognostics.展开更多
文摘Background: Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund- Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome(RA dial hypoplasia/aplasia,PA tellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size[>2 SDs below the mean in height] and Limb malformation, and slender NOse and NOrmal intelligence). While many features of the 2 genetic disorders overlap, poikiloderma- a hallmark of RTS- has been described as generally absent in RAPADILINO syndrome. Observations: We report herein a patient with RTS who carries a truncating mutation and a new lyidentified missense mutation of RECQL4. The proband uniquely developed all criteria of RAPADILINO in addition to his prominent skin findings. Conclusions: Patients with RTS may possess all features of RAPADILINO. Consequently, a genetic approach to RTS and RAPADILINO could be beneficial. This approach may provide a better understanding of the wide variety of related phenotypic findings and improve prognostics.
