An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.
Autosomal recessive intellectual disability (ID) is characterized by extensive genetic heterogeneity. Recently, three mutations in SZT2 were reported in two unrelated children with unexplained infantile epileptic encephalopathy with severe ID. Here we report a European American family with three chi...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2013-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC3855772?pdf=render |
| _version_ | 1819104189994762240 |
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| author | Michelle Falcone Kemal O Yariz David B Ross Joseph Foster Ibis Menendez Mustafa Tekin |
| author_facet | Michelle Falcone Kemal O Yariz David B Ross Joseph Foster Ibis Menendez Mustafa Tekin |
| author_sort | Michelle Falcone |
| collection | DOAJ |
| description | Autosomal recessive intellectual disability (ID) is characterized by extensive genetic heterogeneity. Recently, three mutations in SZT2 were reported in two unrelated children with unexplained infantile epileptic encephalopathy with severe ID. Here we report a European American family with three children having non-syndromic mild or moderate ID without seizures. Whole-exome sequencing of three affected siblings revealed a three base pair deletion (c.4202_4204delTTC) located in a 19 mb autozygous region on chromosome 1, leading to an amino acid deletion (p.Phe1401del) in SZT2. All three children were homozygous for the deletion and their parents were heterozygous as expected in autosomal recessive inheritance. SZT2 is highly expressed in neuronal tissues and regulates seizure threshold and neuronal excitation in mice. We conclude that the disruption of SZT2 with some residual function might lead to mild or moderate ID without seizures. |
| first_indexed | 2024-12-22T02:02:24Z |
| format | Article |
| id | doaj.art-984451e954aa47689ed9ffc2f32b68c4 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-22T02:02:24Z |
| publishDate | 2013-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-984451e954aa47689ed9ffc2f32b68c42022-12-21T18:42:37ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-01812e8281010.1371/journal.pone.0082810An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.Michelle FalconeKemal O YarizDavid B RossJoseph FosterIbis MenendezMustafa TekinAutosomal recessive intellectual disability (ID) is characterized by extensive genetic heterogeneity. Recently, three mutations in SZT2 were reported in two unrelated children with unexplained infantile epileptic encephalopathy with severe ID. Here we report a European American family with three children having non-syndromic mild or moderate ID without seizures. Whole-exome sequencing of three affected siblings revealed a three base pair deletion (c.4202_4204delTTC) located in a 19 mb autozygous region on chromosome 1, leading to an amino acid deletion (p.Phe1401del) in SZT2. All three children were homozygous for the deletion and their parents were heterozygous as expected in autosomal recessive inheritance. SZT2 is highly expressed in neuronal tissues and regulates seizure threshold and neuronal excitation in mice. We conclude that the disruption of SZT2 with some residual function might lead to mild or moderate ID without seizures.http://europepmc.org/articles/PMC3855772?pdf=render |
| spellingShingle | Michelle Falcone Kemal O Yariz David B Ross Joseph Foster Ibis Menendez Mustafa Tekin An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. PLoS ONE |
| title | An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. |
| title_full | An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. |
| title_fullStr | An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. |
| title_full_unstemmed | An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. |
| title_short | An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. |
| title_sort | amino acid deletion inszt2 in a family with non syndromic intellectual disability |
| url | http://europepmc.org/articles/PMC3855772?pdf=render |
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