De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.

doi:10.1136/jmedgenet-2020-107137

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Article

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.

Journal of medical genetics - 1 Oct 2021

Malhotra Alka, Ziegler Alban, Shu Li, Perrier Renee, Amlie-Wolf Louise, Wohler Elizabeth, Lygia de Macena Sobreira Nara, Colin Estelle, Vanderver Adeline, Sherbini Omar, Stouffs Katrien, Scalais Emmanuel, Serretti Alessandro, Barth Magalie, Navet Benjamin, Rollier Paul, Xi Hui, Wang Hua, Zhang Hainan, Perry Denise L, Ferrarini Alessandra, Colombo Roberto, Pepler Alexander, Schneider Adele, Tomiwa Kiyotaka, Okamoto Nobuhiko, Matsumoto Naomichi, Miyake Noriko, Taft Ryan, Mao Xiao, Bonneau Dominique

Abstract excerpt

OBJECTIVE: To determine the potential disease association between variants in LMBRD2 and complex multisystem neurological and developmental delay phenotypes. METHODS: Here we describe a series of de novo missense variants in LMBRD2 in 10 unrelated individuals with overlapping features. Exome sequencing or genome sequencing was performed on all individuals, and the cohort was assembled through GeneMatcher....

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Identifiers

PMID: 32820033
DOI: 10.1136/jmedgenet-2020-107137
PMCID: PMC11431178

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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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