Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
Eur J Hum Genet
; 24(4): 611-4, 2016 Apr.
Article
in En
| MEDLINE
| ID: mdl-26395554
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Germ-Line Mutation
/
Malformations of Cortical Development
/
Mosaicism
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Eur J Hum Genet
Year:
2016
Document type:
Article