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Article

Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.

American journal of medical genetics. Part A - 1 Jul 2022

Onesimo Roberta, Delogu Angelica Bibiana, Blandino Rita, Leoni Chiara, Rosati Jessica, Zollino Marcella, Zampino Giuseppe

Abstract excerpt

Smith Magenis syndrome (SMS) is a rare neurobehavioral disorder caused by 17p11.2 microdeletion encompassing Retinoic Acid-Induced 1 (RAI1) gene (90% of cases) or by RAI1 point mutation (10% of cases). The neuropsychological phenotype of individuals with 17p11.2 deletion and in those with RAI1 variants mostly overlaps. However, cardiac defects have been described only in patients with a deletion so far. Here, we...

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Identifiers

PMID: 35373511
DOI: 10.1002/ajmg.a.62740

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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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Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.PMID 35373511Read ↗

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