In:
American Journal of Medical Genetics Part A, Wiley, Vol. 179, No. 6 ( 2019-06), p. 1030-1033
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.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.61127
Language:
English
Publisher:
Wiley
Publication Date:
2019
detail.hit.zdb_id:
1493479-6
SSG:
12
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