Ontology highlight
ABSTRACT:
SUBMITTER: Koboldt DC
PROVIDER: S-EPMC6169820 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Koboldt Daniel C DC Kastury Rama D RD Waldrop Megan A MA Kelly Benjamin J BJ Mosher Theresa Mihalic TM McLaughlin Heather H Corsmeier Don D Slaughter Jonathan L JL Flanigan Kevin M KM McBride Kim L KL Mehta Lakshmi L Wilson Richard K RK White Peter P
Cold Spring Harbor molecular case studies 20181001 5
We describe two unrelated patients, a 12-yr-old female and a 6-yr-old male, with congenital contractures and severe congenital muscular atrophy. Exome and genome sequencing of the probands and their unaffected parents revealed that they have the same de novo deletion in <i>BICD2</i> (c.1636_1638delAAT). The variant, which has never been reported, results in an in-frame 3-bp deletion and is predicted to cause loss of an evolutionarily conserved asparagine residue at position 546 in the protein. M ...[more]