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Article

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

Journal of human genetics - 1 Sept 2016

Fujita Atsushi, Isidor Bertrand, Piloquet Hugues, Corre Pierre, Okamoto Nobuhiko, Nakashima Mitsuko, Tsurusaki Yoshinori, Saitsu Hirotomo, Miyake Noriko, Matsumoto Naomichi

Abstract excerpt

MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we report a female patient with a de novo nonsense mutation (c.611C>G, p.Ser204*) in MEIS2. She showed...

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Identifiers

PMID: 27225850
DOI: 10.1038/jhg.2016.54

Genes

MEIS2

Variants

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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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