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Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia
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| Zeitschriftentitel: | Clinical Genetics |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , |
| In: | Clinical Genetics, 96, 2019, 2, S. 169-175 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Nicita, Francesco Nardella, Marta Bellacchio, Emanuele Alfieri, Paolo Terrone, Gaetano Piccini, Giorgia Graziola, Federica Pignata, Claudio Capuano, Alessandro Bertini, Enrico Zanni, Ginevra Nicita, Francesco Nardella, Marta Bellacchio, Emanuele Alfieri, Paolo Terrone, Gaetano Piccini, Giorgia Graziola, Federica Pignata, Claudio Capuano, Alessandro Bertini, Enrico Zanni, Ginevra |
|---|---|
| author |
Nicita, Francesco Nardella, Marta Bellacchio, Emanuele Alfieri, Paolo Terrone, Gaetano Piccini, Giorgia Graziola, Federica Pignata, Claudio Capuano, Alessandro Bertini, Enrico Zanni, Ginevra |
| spellingShingle |
Nicita, Francesco Nardella, Marta Bellacchio, Emanuele Alfieri, Paolo Terrone, Gaetano Piccini, Giorgia Graziola, Federica Pignata, Claudio Capuano, Alessandro Bertini, Enrico Zanni, Ginevra Clinical Genetics Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia Genetics (clinical) Genetics |
| author_sort |
nicita, francesco |
| spelling |
Nicita, Francesco Nardella, Marta Bellacchio, Emanuele Alfieri, Paolo Terrone, Gaetano Piccini, Giorgia Graziola, Federica Pignata, Claudio Capuano, Alessandro Bertini, Enrico Zanni, Ginevra 0009-9163 1399-0004 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1111/cge.13562 <jats:title>Abstract</jats:title><jats:p>Heterozygous missense variants in the <jats:italic>SPTBN2</jats:italic> gene, encoding the non‐erythrocytic beta spectrin 2 subunit (beta‐III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult‐onset neurodegenerative disorder characterized by progressive cerebellar ataxia, whereas homozygous loss of function variants in <jats:italic>SPTBN2</jats:italic> have been associated with early onset cerebellar ataxia and global developmental delay (SCAR14). Recently, heterozygous <jats:italic>SPTBN2</jats:italic> missense variants have been identified in a few patients with an early‐onset ataxic phenotype. We report five patients with non‐progressive congenital ataxia and psychomotor delay, 4/5 harboring novel heterozygous missense variants in <jats:italic>SPTBN2</jats:italic> and one patient with compound heterozygous <jats:italic>SPTBN2</jats:italic> variants. With an overall prevalence of 5% in our cohort of unrelated patients screened by targeted next‐generation sequencing (NGS) for congenital or early‐onset cerebellar ataxia, this study indicates that both dominant and recessive mutations of <jats:italic>SPTBN2</jats:italic> together with <jats:italic>CACNA1A</jats:italic> and <jats:italic>ITPR1,</jats:italic> are a frequent cause of early‐onset/congenital non‐progressive ataxia and that their screening should be implemented in this subgroup of disorders.</jats:p> Heterozygous missense variants of <i>SPTBN2</i> are a frequent cause of congenital cerebellar ataxia Clinical Genetics |
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10.1111/cge.13562 |
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Wiley, 2019 |
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Clinical Genetics |
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| title |
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia |
| title_unstemmed |
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia |
| title_full |
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia |
| title_fullStr |
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia |
| title_full_unstemmed |
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia |
| title_short |
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia |
| title_sort |
heterozygous missense variants of <i>sptbn2</i> are a frequent cause of congenital cerebellar ataxia |
| topic |
Genetics (clinical) Genetics |
| url |
http://dx.doi.org/10.1111/cge.13562 |
| publishDate |
2019 |
| physical |
169-175 |
| description |
<jats:title>Abstract</jats:title><jats:p>Heterozygous missense variants in the <jats:italic>SPTBN2</jats:italic> gene, encoding the non‐erythrocytic beta spectrin 2 subunit (beta‐III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult‐onset neurodegenerative disorder characterized by progressive cerebellar ataxia, whereas homozygous loss of function variants in <jats:italic>SPTBN2</jats:italic> have been associated with early onset cerebellar ataxia and global developmental delay (SCAR14). Recently, heterozygous <jats:italic>SPTBN2</jats:italic> missense variants have been identified in a few patients with an early‐onset ataxic phenotype. We report five patients with non‐progressive congenital ataxia and psychomotor delay, 4/5 harboring novel heterozygous missense variants in <jats:italic>SPTBN2</jats:italic> and one patient with compound heterozygous <jats:italic>SPTBN2</jats:italic> variants. With an overall prevalence of 5% in our cohort of unrelated patients screened by targeted next‐generation sequencing (NGS) for congenital or early‐onset cerebellar ataxia, this study indicates that both dominant and recessive mutations of <jats:italic>SPTBN2</jats:italic> together with <jats:italic>CACNA1A</jats:italic> and <jats:italic>ITPR1,</jats:italic> are a frequent cause of early‐onset/congenital non‐progressive ataxia and that their screening should be implemented in this subgroup of disorders.</jats:p> |
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| author | Nicita, Francesco, Nardella, Marta, Bellacchio, Emanuele, Alfieri, Paolo, Terrone, Gaetano, Piccini, Giorgia, Graziola, Federica, Pignata, Claudio, Capuano, Alessandro, Bertini, Enrico, Zanni, Ginevra |
| author_facet | Nicita, Francesco, Nardella, Marta, Bellacchio, Emanuele, Alfieri, Paolo, Terrone, Gaetano, Piccini, Giorgia, Graziola, Federica, Pignata, Claudio, Capuano, Alessandro, Bertini, Enrico, Zanni, Ginevra, Nicita, Francesco, Nardella, Marta, Bellacchio, Emanuele, Alfieri, Paolo, Terrone, Gaetano, Piccini, Giorgia, Graziola, Federica, Pignata, Claudio, Capuano, Alessandro, Bertini, Enrico, Zanni, Ginevra |
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| description | <jats:title>Abstract</jats:title><jats:p>Heterozygous missense variants in the <jats:italic>SPTBN2</jats:italic> gene, encoding the non‐erythrocytic beta spectrin 2 subunit (beta‐III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult‐onset neurodegenerative disorder characterized by progressive cerebellar ataxia, whereas homozygous loss of function variants in <jats:italic>SPTBN2</jats:italic> have been associated with early onset cerebellar ataxia and global developmental delay (SCAR14). Recently, heterozygous <jats:italic>SPTBN2</jats:italic> missense variants have been identified in a few patients with an early‐onset ataxic phenotype. We report five patients with non‐progressive congenital ataxia and psychomotor delay, 4/5 harboring novel heterozygous missense variants in <jats:italic>SPTBN2</jats:italic> and one patient with compound heterozygous <jats:italic>SPTBN2</jats:italic> variants. With an overall prevalence of 5% in our cohort of unrelated patients screened by targeted next‐generation sequencing (NGS) for congenital or early‐onset cerebellar ataxia, this study indicates that both dominant and recessive mutations of <jats:italic>SPTBN2</jats:italic> together with <jats:italic>CACNA1A</jats:italic> and <jats:italic>ITPR1,</jats:italic> are a frequent cause of early‐onset/congenital non‐progressive ataxia and that their screening should be implemented in this subgroup of disorders.</jats:p> |
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| spelling | Nicita, Francesco Nardella, Marta Bellacchio, Emanuele Alfieri, Paolo Terrone, Gaetano Piccini, Giorgia Graziola, Federica Pignata, Claudio Capuano, Alessandro Bertini, Enrico Zanni, Ginevra 0009-9163 1399-0004 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1111/cge.13562 <jats:title>Abstract</jats:title><jats:p>Heterozygous missense variants in the <jats:italic>SPTBN2</jats:italic> gene, encoding the non‐erythrocytic beta spectrin 2 subunit (beta‐III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult‐onset neurodegenerative disorder characterized by progressive cerebellar ataxia, whereas homozygous loss of function variants in <jats:italic>SPTBN2</jats:italic> have been associated with early onset cerebellar ataxia and global developmental delay (SCAR14). Recently, heterozygous <jats:italic>SPTBN2</jats:italic> missense variants have been identified in a few patients with an early‐onset ataxic phenotype. We report five patients with non‐progressive congenital ataxia and psychomotor delay, 4/5 harboring novel heterozygous missense variants in <jats:italic>SPTBN2</jats:italic> and one patient with compound heterozygous <jats:italic>SPTBN2</jats:italic> variants. With an overall prevalence of 5% in our cohort of unrelated patients screened by targeted next‐generation sequencing (NGS) for congenital or early‐onset cerebellar ataxia, this study indicates that both dominant and recessive mutations of <jats:italic>SPTBN2</jats:italic> together with <jats:italic>CACNA1A</jats:italic> and <jats:italic>ITPR1,</jats:italic> are a frequent cause of early‐onset/congenital non‐progressive ataxia and that their screening should be implemented in this subgroup of disorders.</jats:p> Heterozygous missense variants of <i>SPTBN2</i> are a frequent cause of congenital cerebellar ataxia Clinical Genetics |
| spellingShingle | Nicita, Francesco, Nardella, Marta, Bellacchio, Emanuele, Alfieri, Paolo, Terrone, Gaetano, Piccini, Giorgia, Graziola, Federica, Pignata, Claudio, Capuano, Alessandro, Bertini, Enrico, Zanni, Ginevra, Clinical Genetics, Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia, Genetics (clinical), Genetics |
| title | Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia |
| title_full | Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia |
| title_fullStr | Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia |
| title_full_unstemmed | Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia |
| title_short | Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia |
| title_sort | heterozygous missense variants of <i>sptbn2</i> are a frequent cause of congenital cerebellar ataxia |
| title_unstemmed | Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia |
| topic | Genetics (clinical), Genetics |
| url | http://dx.doi.org/10.1111/cge.13562 |