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Article

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.

Cold Spring Harbor molecular case studies - 1 Oct 2018

Koboldt Daniel C, Kastury Rama D, Waldrop Megan A, Kelly Benjamin J, Mosher Theresa Mihalic, McLaughlin Heather, Corsmeier Don, Slaughter Jonathan L, Flanigan Kevin M, McBride Kim L, Mehta Lakshmi, Wilson Richard K, White Peter

Abstract excerpt

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 BICD2 (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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30054298
DOI: 10.1101/mcs.a003160
PMCID: PMC6169820

Genes

BICD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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