Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

Eur J Hum Genet 2016 Apr 23;24(4):611-4. Epub 2015 Sep 23.

Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France.

To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of cortical development (MCD). Interestingly, four families with parental germline variants, out of 18, were identified by whole-exome sequencing (WES), including a variant in a new candidate gene, syntaxin 7. In view of this high frequency, revision of diagnostic strategies and reoccurrence risk should be considered not only for the recurrent forms, but also for the sporadic cases of MCD.

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http://dx.doi.org/10.1038/ejhg.2015.192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929884PMC
April 2016
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