Expanding the MYCN Variant Spectrum in Feingold Syndrome Type 1: A Novel N-Terminal Missense Variant Segregating in an Affected Family.

Abstract excerpt

This study reports a previously unreported heterozygous MYCN missense variant, c.454G>A (p.Ala152Thr), identified in a child and two affected relatives, with clinical findings consistent with Feingold syndrome type 1, an autosomal dominant developmental disorder most commonly caused by loss-of-function variants in MYCN. The proband presented with a cleft palate, craniofacial dysmorphism, feeding difficulties,...

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