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

ABSTRACT: 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.

SUBMITTER: Zillhardt JL 

PROVIDER: S-EPMC4929884 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature

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

Zillhardt Julia Lauer JL   Poirier Karine K   Broix Loïc L   Lebrun Nicolas N   Elmorjani Adrienne A   Martinovic Jelena J   Saillour Yoann Y   Muraca Giuseppe G   Nectoux Juliette J   Bessieres Bettina B   Fallet-Bianco Catherine C   Lyonnet Stanislas S   Dulac Olivier O   Odent Sylvie S   Rejeb Imen I   Ben Jemaa Lamia L   Rivier Francois F   Pinson Lucile L   Geneviève David D   Musizzano Yuri Y   Bigi Nicole N   Leboucq Nicolas N   Giuliano Fabienne F   Philip Nicole N   Vilain Catheline C   Van Bogaert Patrick P   Maurey Hélène H   Beldjord Cherif C   Artiguenave François F   Boland Anne A   Olaso Robert R   Masson Cécile C   Nitschké Patrick P   Deleuze Jean-François JF   Bahi-Buisson Nadia N   Chelly Jamel J  

European journal of human genetics : EJHG 20150923 4

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  ...[more]

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