1.
Int J Pediatr Otorhinolaryngol
; 127: 109653, 2019 Dec.
Article
in English
| MEDLINE
| ID: mdl-31472357
ABSTRACT
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.
Subject(s)
Connexin 26/genetics , Connexins/genetics , Hearing Loss, Sensorineural/genetics , Child , Female , Heterozygote , Humans , Male , Mutation , Pedigree
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.
Article
in English
| MEDLINE
| ID: mdl-27911132
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 17 , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/genetics , Oncogene Proteins, Fusion/genetics , STAT5 Transcription Factor/genetics , Adult , Antineoplastic Combined Chemotherapy Protocols/adverse effects , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Biopsy , Blood Cell Count , Bone Marrow/pathology , Comparative Genomic Hybridization , Humans , Immunophenotyping , In Situ Hybridization, Fluorescence , Leukemia, Myeloid, Acute/drug therapy , Male , Treatment Outcome
3.
Leuk Lymphoma
; 49(3): 592-5, 2008 Mar.
Article
in English
| MEDLINE
| ID: mdl-18297541