Novel variant of FBN2 in a patient with congenital contractual arachnodactyly.

Nakama, Mina; Miwa, Yuki; Manabe, Sayaka; Shimamoto, Shigeru; Ohnishi, Hidenori.

Afiliação

Nakama M; Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan. nakama@life.kindai.ac.jp.
Miwa Y; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. nakama@life.kindai.ac.jp.
Manabe S; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
Shimamoto S; Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan.
Ohnishi H; Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan.

Hum Genome Var ; 11(1): 7, 2024 Feb 08.

Article em En | MEDLINE | ID: mdl-38326314

ABSTRACT

Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome. Genetic analysis revealed c.3207_3217+9del in a heterozygote form of the fibrillin-2 (FBN2) gene. This patient was diagnosed with CCA based on his phenotype, and the pathogenicity of this variant was classified according to cDNA analysis and protein modeling.

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article