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Article

Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.

Pediatric research - 1 Apr 2023

Micale Lucia, Russo Federica, Mascaro Martina, Morlino Silvia, Nardella Grazia, Fusco Carmela, Bisceglia Luigi, Meroni Germana, Castori Marco

Abstract excerpt

BACKGROUND: Loss-of-function variants in MID1 are the most common cause of Opitz G/BBB syndrome (OS). The interpretation of intronic variants affecting the splicing is a rising issue in OS. METHODS: Exon sequencing of a 2-year-old boy with OS showed that he was a carrier of the de novo c.1286-10G>T variant in MID1. In silico predictions and minigene assays explored the effect of the variant on splicing. The...

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Identifiers

PMID: 35953512
DOI: 10.1038/s41390-022-02237-y

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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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