Rothmund-Thomson syndrome

Definition:

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, sparse hair, short stature, and skeletal anomalies. RTS type 1 is associated with juvenile cataracts. Mutations in ANAPC1, encoding a subunit of the anaphase-promoting complex, cause RTS1. RTS type 2, which is defined by the presence of bi-allelic mutations in RECQL4, is characterized by increased cancer susceptibility. RECQL4 is shown to be important protein for DNA replication, repair, and telomere maintenance.

References:

[1]. Leslie K Ferrarelli, et al. The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions. DNA Repair (Amst). 2013 Jul;12(7):518-28. [Content Brief]

[2]. Norbert F Ajeawung, et al. Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. Am J Hum Genet. 2019 Sep 5;105(3):625-630. [Content Brief]

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