Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.

ABSTRACT: Ultimate advances in genetic technologies have permitted the detection of transmitted cases of congenital diseases due to parental gonadosomatic mosaicism. Regarding Cornelia de Lange syndrome (CdLS), up to date, only a few cases are known to follow this inheritance pattern. However, the high prevalence of somatic mosaicism recently reported in this syndrome (∼13%), together with the disparity observed in tissue distribution of the causal variant, suggests that its prevalence in this disorder could be underestimated. Here, we report a new case of parental gonadosomatic mosaicism in SMC1A gene that causes inherited CdLS, in which the mother of the patient carries the causative variant in very low allele frequencies in buccal swab and blood. While the affected child presents with typi

SUBMITTER: Gil-Salvador M 

PROVIDER: S-EPMC9554350 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature