Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases

eJHaem

article

Catarina Dantas Rodrigues¹  Rita Pombal²  Janet Pereira³  Luís Relvas³  Elizabete Cunha³  José Carlos Almeida³  Tabita Maia³  Helena Silva¹  Celeste Bento³ 

[1] Serviço de Hematologia, Centro Hospitalar de Tondela Viseu;Serviço de Imunohemoterapia, Centro Hospitalar de Vila Nova de Gaia/Espinho;Eritropatologia e Metabolismo do Ferro, Serviço de Hematologia Clínica, Centro Hospitalar Universitário de Coimbra;CIAS, Centro de Investigação em Antropologia e Saúde, Universidade de Coimbra

关键词: congenital erythrocytosis;    erythrocytosis;    polycythaemia;    VHL;    von Hippel–Lindau;   

DOI  :  10.1002/jha2.490

来源: Wiley

【 摘 要 】

Congenital erythrocytosis (CE) represents a rare and heterogeneous group of hereditary disorders. The molecular basis of VHL gene mutations related to CE. Recently, Lenglet et al. reported a discovery of a novel cryptic exon in the VHL gene. Mutations in the first intronic region resulting in the creation of a cryptic exon termed E1ʹ were found in seven families with CE and one family with VHL disease. We report three patients with prolonged CE with the aetiology being clarified several years later by sequencing of intronic region 1 of the VHL gene. This work addresses the first cases reported at the clinical level of VHL-associated CE due to the E1ʹ cryptic exon.

【 授权许可】

Unknown