Clinical ReportRecurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction
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Conclusion
Our data suggest that the p.(Arg985Gly) RTTN mutation may be recurrent and lead to a severe phenotype, characterized by complex brain phenotype with microcephaly dwarfism. Although the mutation does not affect the Armadillo domain, we anticipate that such a variation located in the “medium-domain” of RTTN may have severe consequences on Rotatin function during development.
Funding sources
Research reported in this publication was supported by the Agence Nationale de la Recherche [ANR-16-CE16-0011 MC, AB, NBB]; the Fondation Maladies Rares; and DESIRE [grant agreement 602531]; and COST Action Proposal OC-2016-1-20862 “European Network on Brain Malformations”.
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