A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia

• Tipo: Artigo em Revista Científica Internacional
• Data: 2014

Autores

Catarina M Seabra (Autor) Outra; Sofia Quental (Autor) Outra; Ana Paula Neto (Autor) Outra; Filipa Carvalho (Autor) Outra; Joao Goncalves (Autor) Outra; Joao Paulo Oliveira (Autor) Outra; Susana Fernandes (Autor) Outra; Mario Sousa (Autor) Outra; Alberto Barros (Autor) Outra; Antonio Amorim (Autor) FCUP; Alexandra M Lopes (Autor) Outra

Revista

Título: Reproductive BioMedicine Online

Vol. 29

Páginas: 388-391

ISSN: 1472-6483

Editora: Elsevier

Indexação

ISI Web of Knowledge - 15 Citações

Scopus - 16 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Medicina clínica

Outras Informações

ID Authenticus: P-009-T6J

DOI: 10.1016/j.rbmo.2014.04.017

Abstract (EN): This article describes a patient with cryptorchidism and nonobstructive azoospermia presenting a novel microdeletion of approximately 1 Mb at 11p13. It was confirmed by multiplex ligation-dependent probe amplification that this heterozygous deletion spanned nine genes (WT1, EIF3M, CCDC73, PRRG4, QSER1, DEPDC7, TCP11L1, CSTF3 and HIPK3) and positioned the breakpoints within highly homologous repetitive elements. As far as is known, this is the smallest deletion as-yet described encompassing the WT1 gene and was detected only once in a total of 32 Portuguese patients with isolated uni- or bilateral cryptorchidism. These findings suggest that molecular analysis in patients with genitourinary features suggestive of WT1 impairment, namely cryptorchidism and renal abnormalities, may reveal cryptic genetic defects.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4