1.
Int J Pediatr Otorhinolaryngol
; 127: 109653, 2019 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31472357
RESUMO
Several forms of sensorineural hearing loss (SNHL) have been imputated to connexins mutations and prevalently to connexin 26 (Cx26), codified by the GJB2 gene (gap junction protein, beta 2). Here, we report the first familiar case (heterozygous p. G130V mutation) of non-syndromic (without any dermatological manifestation) dominant profound SNHL. Proband was a 6-years-old male with post-lingual bilateral profound SNHL, clinically identified at the age of 3 with diagnosis of severe SNHL. We confirm that the p. G130V variant of the GJB2 gene is causative of autosomal dominant form of SNHL, although it is not always associated with the presence of skin diseases.
Assuntos
Conexina 26/genética , Conexinas/genética , Perda Auditiva Neurossensorial/genética , Criança , Feminino , Heterozigoto , Humanos , Masculino , Mutação , Linhagem
2.
A new acute myeloid leukemia case with STAT5B-RARA gene fusion due to 17q21.2 interstitial deletion.
Leuk Lymphoma
; 58(8): 1977-1980, 2017 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27911132