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Article

Biallelic truncating variants in VGLL2 cause syngnathia in humans.

Journal of medical genetics - 1 Nov 2023

Agostini Valeria, Tessier Aude, Djaziri Nabila, Khonsari Roman Hossein, Galliani Eva, Kurihara Yukiko, Honda Masahiko, Kurihara Hiroki, Hidaka Kyoko, Tuncbilek Gokhan, Picard Arnaud, Konas Ersoy, Amiel Jeanne, Gordon Christopher T

Abstract excerpt

BACKGROUND: Syngnathia is an ultrarare craniofacial malformation characterised by an inability to open the mouth due to congenital fusion of the upper and lower jaws. The genetic causes of isolated bony syngnathia are unknown. METHODS: We used whole exome and Sanger sequencing and microsatellite analysis in six patients (from four families) presenting with syngnathia. We used CRISPR/Cas9 genome editing to...

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Identifiers

PMID: 37666660
DOI: 10.1136/jmg-2022-109059

Genes

VGLL2

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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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