PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1. Issue 6 (23rd March 2019)

• Record Type: Journal Article
• Authors: Bonnemason‐Carrere, Paul; Morice‐Picard, Fanny; Pennamen, Perrine; Arveiler, Benoit; Fergelot, Patricia; Goizet, Cyril; Hellegouarch, Mélanie; Lacombe, Didier; Plaisant, Claudio; Raclet, Virginie; Rooryck, Caroline; Lasseaux, Eulalie; Trimouille, Aurélien
• Is Part Of: American journal of medical genetics. Volume 179:Issue 6(2019)
• Page Start: 1030
• Page End: 1033
• Publication Date: 2019-03-23
• Subjects: hair dysplasia -- intellectual disability -- PUM1 -- whole‐exome sequencing; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61127
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : PUM1 has been very recently reported as responsible for a new form of developmental disorder named PADDAS syndrome. We describe here an additional patient with early onset developmental delay, epilepsy, microcephaly, and hair dysplasia, with a de novo heterozygous missense variant of PUM1 : c.3439C > T, p.(Arg1147Trp). This variant was absent from databases and predicted deleterious by multiple softwares. The same missense variant has been reported by Gennarino et al., in a girl with much more severe epilepsy. Our report is in favor of a variable expressivity of PADDAS syndrome, and broadens the phenotypic spectrum with the description of hair dysplasia.