PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Am J Med Genet. 2019-03-23; 179(6): 1030-1033
DOI: 10.1002/ajmg.a.61127
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1. Am J Med Genet A. 2019 Jun;179(6):1030-1033. doi: 10.1002/ajmg.a.61127. Epub 2019
Mar 23.
PADDAS syndrome associated with hair dysplasia caused by a de novo missense
variant of PUM1.
Bonnemason-Carrere P(1), Morice-Picard F(2), Pennamen P(1)(3), Arveiler B(1)(3),
Fergelot P(1)(3), Goizet C(1)(3), Hellegouarch M(1), Lacombe D(1)(3), Plaisant
C(1), Raclet V(1), Rooryck C(1)(3), Lasseaux E(1), Trimouille A(1)(3).
Author information:
(1)Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
(2)Department of Dermatology, Paediatric Dermatology Unit, National Reference
Center for Rare Skin Disorders, CHU Bordeaux, Bordeaux, France.
(3)Maladies Rares: Génétique et Métabolisme (MRGM), Inserm U1211, University of
Bordeaux, Bordeaux, France.
Comment in
Am J Med Genet A. 2020 Mar;182(3):591-594.
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.
© 2019 Wiley Periodicals, Inc.
DOI: 10.1002/ajmg.a.61127
PMID: 30903679 [Indexed for MEDLINE]