PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1

被引：6

作者：

Bonnemason-Carrere, Paul ^{[1
]}

Morice-Picard, Fanny ^{[2
]}

Pennamen, Perrine ^{[1
,3
]}

Arveiler, Benoit ^{[1
,3
]}

Fergelot, Patricia ^{[1
,3
]}

Goizet, Cyril ^{[1
,3
]}

Hellegouarch, Melanie ^{[1
]}

Lacombe, Didier ^{[1
,3
]}

Plaisant, Claudio ^{[1
]}

Raclet, Virginie ^{[1
]}

Rooryck, Caroline ^{[1
,3
]}

Lasseaux, Eulalie ^{[1
]}

Trimouille, Aurelien ^{[1
,3
]}

机构：

[1] CHU Bordeaux, Dept Med Genet, Pl Amelie Raba Leon, F-33076 Bordeaux, France

[2] CHU Bordeaux, Natl Reference Ctr Rare Skin Disorders, Paediat Dermatol Unit, Dept Dermatol, Chu Bordeaux, France

[3] Univ Bordeaux, Inserm U1211, MRGM, Bordeaux, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2019年 / 179卷 / 06期

关键词：

hair dysplasia; intellectual disability; PUM1; whole-exome sequencing; MUTATION; NEURODEGENERATION;

D O I：

10.1002/ajmg.a.61127

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1030 / 1033

页数：4

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