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Article

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.

European journal of human genetics : EJHG - 1 Nov 2022

Sironi Alessandra, Bestetti Ilaria, Masciadri Maura, Tumiatti Francesca, Crippa Milena, Pantaleoni Chiara, Russo Silvia, D'Arrigo Stefano, Milani Donatella, Larizza Lidia, Finelli Palma

Abstract excerpt

RAI1 is a dosage-sensitive gene whose decreased or increased expression by recurrent and non-recurrent 17p11.2 deletions or duplications causes Smith-Magenis (SMS) or Potocki-Lupski syndromes (PTLS), respectively. Here we report on a 21-year-old female patient showing SMS phenotype who was found to carry a 3.4 kb de novo intragenic RAI1 deletion. Interestingly, a significant increase in RAI1 transcript levels was...

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Identifiers

PMID: 35821519
DOI: 10.1038/s41431-022-01143-5
PMCID: PMC9626456

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