Microcephaly, growth restriction, and increased sister chromatid exchange

Definition:

Microcephaly, growth restriction, and increased sister chromatid exchange (MGRISCE) is characterized by prenatal onset growth restriction and microcephaly. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges on cytogenetic testing. MGRISCE1, caused by biallelic mutations in BLM, is known as Bloom syndrome [DS:H01346]. Recently, MGRISCE2, caused by mutations in TOP3A, has been reported. TOP3A encodes topoisomerase III alpha, which binds to BLM as part of the BTRR complex, and promotes dissolution of double Holliday junctions arising during homologous recombination.

References:

[1]. Carol-Anne Martin, et al. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am J Hum Genet. 2018 Aug 2;103(2):221-231. [Content Brief]

[2]. Judith S Renes, et al. Bloom syndrome in short children born small for gestational age: a challenging diagnosis. J Clin Endocrinol Metab. 2013 Oct;98(10):3932-8. [Content Brief]

[3]. R S Chaganti, et al. A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes. Proc Natl Acad Sci U S A. 1974 Nov;71(11):4508-12. [Content Brief]

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