Daniela Leone
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Research Interests
Daniela Leone has a total of 8 co-authors. Here are the top co-authors by number of shared publications:
- Adele D' Amico
Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
1 shared publication - Enrico Bertini
Unit of Muscular and Neurodegenerative Diseases Bambino Gesù Children's Hospital, IRCCS Rome Italy
1 shared publication - Eugenio Mercuri
Pediatric Neurology Unit Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy
1 shared publication - Fabiana Fattori
Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, Rome, Italy
1 shared publication - Laura Costa-Comellas
Pediatric Neuromuscular Disorders Unit, Pediatric Neurology Department Vall D‘hebron Barcelona Hospital Campus Barcelona Spain
1 shared publication - Luca Bosco
Neuromuscular and Neurodegenerative Disorders Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
1 shared publication
Latest Publications
- Open Access
- 7 September 2022
- Published by MDPI AG in International Journal of Molecular Sciences
- Vol. 23 (18) , 10274
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy
X-linked myotubular myopathy (XLMTM) is a severe form of centronuclear myopathy, characterized by generalized weakness and respiratory insufficiency, associated with pathogenic variants in the MTM1 gene. NGS targeted sequencing on the DNA of a three-month-old child affected by XLMTM identified the novel hemizygous MTM1 c.1261-5T>G intronic variant, which interferes with the normal splicing process, generating two different abnormal transcripts simultaneously expressed in the patient’s muscular cells. The first aberrant transcript, induced by the activation of a cryptic splice site in intron 11, includes four intronic nucleotides upstream of exon 12, resulting in a shift in the transcript reading frame and introducing a new premature stop codon in the catalytic domain of the protein (p.Arg421SerfsTer7). The second aberrant MTM1 transcript, due to the lack of recognition of the 3′ acceptor splice site of intron 11 from the spliceosome complex, leads to the complete skipping of exon 12. We expanded the genotypic spectrum of XLMTM underlying the importance of intron–exons boundaries sequencing in male patients affected by XLMTM.
- 7 September 2022
- Published by MDPI AG in International Journal of Molecular Sciences
- Vol. 23 (18) , 10274
Open AccessNovel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy
X-linked myotubular myopathy (XLMTM) is a severe form of centronuclear myopathy, characterized by generalized weakness and respiratory insufficiency, associated with pathogenic variants in the MTM1 gene. NGS targeted sequencing on the DNA of a three-month-old child affected by XLMTM identified the novel hemizygous MTM1 c.1261-5T>G intronic variant, which interferes with the normal splicing process, generating two different abnormal transcripts simultaneously expressed in the patient’s muscular cells. The first aberrant transcript, induced by the activation of a cryptic splice site in intron 11, includes four intronic nucleotides upstream of exon 12, resulting in a shift in the transcript reading frame and introducing a new premature stop codon in the catalytic domain of the protein (p.Arg421SerfsTer7). The second aberrant MTM1 transcript, due to the lack of recognition of the 3′ acceptor splice site of intron 11 from the spliceosome complex, leads to the complete skipping of exon 12. We expanded the genotypic spectrum of XLMTM underlying the importance of intron–exons boundaries sequencing in male patients affected by XLMTM.