Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome

被引：9

作者：

Souza, Josiane ^{[3
]}

Faucz, Fabio ^{[3
]}

Sotomaior, Vanessa ^{[3
]}

Bonalumi Filho, Aguinaldo ^{[3
]}

Rosenfeld, Jill ^{[4
]}

Raskin, Salmo ^{[1
,2
,3
]}

机构：

[1] GENETIKA Ctr Aconselhamento, BR-80730180 Curitiba, Parana, Brazil

[2] Lab Genet, BR-80730180 Curitiba, Parana, Brazil

[3] Pontificia Univ Catol Parana, Nucleo Invest Mol Avancada, Programa Posgrad Ciencias Saude, Ctr Ciencias Biol & Saude, Curitiba, Parana, Brazil

[4] Signature Genom, Spokane, WA USA

来源：

GENETICS AND MOLECULAR BIOLOGY | 2011年 / 34卷 / 04期

关键词：

19p13.3; deletion; comparative genomic hybridization array; contiguous gene syndrome; Peutz-Jeghers syndrome; STK11; gene; STK11; DELETIONS; MICRODELETION; EXPRESSION; MUTATIONS; PHENOTYPE; TRACT;

D O I：

10.1590/S1415-47572011005000044

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The Peutz-Jeghers syndrome (PJS) is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous pigmentation, gastrointestinal polyps and the increased risk of multiple cancers. The causative point mutation in the STK11 gene of most patients accounts for about 30% of the cases of partial and complete gene deletion. This is a report on a girl with PJS features, learning difficulties, dysmorphic features and cardiac malformation, bearing a de novo 1.1 Mb deletion at 19p13.3. This deletion encompasses at least 47 genes, including STK11. This is the first report on 19p13.3 deletion associated with a PJS phenotype, as well as other atypical manifestations, thereby implying a new contiguous gene syndrome.

引用

页码：557 / 561

页数：5