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Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing
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| Zeitschriftentitel: | Bioscience Reports |
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| Personen und Körperschaften: | , , , , , , , , , , , |
| In: | Bioscience Reports, 39, 2019, 3 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Portland Press Ltd.
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| Schlagwörter: |
| author_facet |
Imani, Saber Cheng, Jingliang Fu, Jiewen Mobasher-Jannat, Abdolkarim Wei, Chunli Mohazzab-Torabi, Saman Jadidi, Khosrow Khosravi, Mohammad Hossein Shasaltaneh, Marzieh Dehghan Yang, Lisha Khan, Md. Asaduzzaman Fu, Junjiang Imani, Saber Cheng, Jingliang Fu, Jiewen Mobasher-Jannat, Abdolkarim Wei, Chunli Mohazzab-Torabi, Saman Jadidi, Khosrow Khosravi, Mohammad Hossein Shasaltaneh, Marzieh Dehghan Yang, Lisha Khan, Md. Asaduzzaman Fu, Junjiang |
|---|---|
| author |
Imani, Saber Cheng, Jingliang Fu, Jiewen Mobasher-Jannat, Abdolkarim Wei, Chunli Mohazzab-Torabi, Saman Jadidi, Khosrow Khosravi, Mohammad Hossein Shasaltaneh, Marzieh Dehghan Yang, Lisha Khan, Md. Asaduzzaman Fu, Junjiang |
| spellingShingle |
Imani, Saber Cheng, Jingliang Fu, Jiewen Mobasher-Jannat, Abdolkarim Wei, Chunli Mohazzab-Torabi, Saman Jadidi, Khosrow Khosravi, Mohammad Hossein Shasaltaneh, Marzieh Dehghan Yang, Lisha Khan, Md. Asaduzzaman Fu, Junjiang Bioscience Reports Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing Cell Biology Molecular Biology Biochemistry Biophysics |
| author_sort |
imani, saber |
| spelling |
Imani, Saber Cheng, Jingliang Fu, Jiewen Mobasher-Jannat, Abdolkarim Wei, Chunli Mohazzab-Torabi, Saman Jadidi, Khosrow Khosravi, Mohammad Hossein Shasaltaneh, Marzieh Dehghan Yang, Lisha Khan, Md. Asaduzzaman Fu, Junjiang 0144-8463 1573-4935 Portland Press Ltd. Cell Biology Molecular Biology Biochemistry Biophysics http://dx.doi.org/10.1042/bsr20181544 <jats:title>Abstract</jats:title><jats:p>Bardet–Biedl syndrome (BBS) is a rare genetically heterogeneous ciliopathy which accompanies retinitis pigmentosa (RP). However, the BBS5 mutation remains unclear in Iranians with BBS. The purpose of study is to evaluate genetic analyses of a BBS Iranian family using targetted exome sequencing (TES). A male 11-year-old proband and three related family members were recruited. Biochemical tests, electrocardiography and visual acuity testing, such as funduscopic, fundus photography (FP), optical coherence tomography (OCT), and standard electroretinography, were conducted. Molecular analysis and high-throughput DNA sequence analysis were performed. The proband was diagnosed with possible BBS based on the presence of three primary features and two secondary features. The TES analysis of the proband with BBS resulted in the identification of a novel, homozygous splicing variant c. 208+2T&gt;C of the BBS5 gene (NM_152384.2) in this Iranian BBS family. This variant was confirmed and was completely co-segregated with the disease in this family by Sanger sequencing. Thus, we report a novel, homozygous splicing site variant c.208+2T&gt;C in the BBS5 gene for the first time in the Iranian family.</jats:p> Novel splicing variant c. 208+2T>C in<i>BBS5</i>segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing Bioscience Reports |
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| title |
Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing |
| title_unstemmed |
Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing |
| title_full |
Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing |
| title_fullStr |
Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing |
| title_full_unstemmed |
Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing |
| title_short |
Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing |
| title_sort |
novel splicing variant c. 208+2t>c in<i>bbs5</i>segregates with bardet–biedl syndrome in an iranian family by targeted exome sequencing |
| topic |
Cell Biology Molecular Biology Biochemistry Biophysics |
| url |
http://dx.doi.org/10.1042/bsr20181544 |
| publishDate |
2019 |
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<jats:title>Abstract</jats:title><jats:p>Bardet–Biedl syndrome (BBS) is a rare genetically heterogeneous ciliopathy which accompanies retinitis pigmentosa (RP). However, the BBS5 mutation remains unclear in Iranians with BBS. The purpose of study is to evaluate genetic analyses of a BBS Iranian family using targetted exome sequencing (TES). A male 11-year-old proband and three related family members were recruited. Biochemical tests, electrocardiography and visual acuity testing, such as funduscopic, fundus photography (FP), optical coherence tomography (OCT), and standard electroretinography, were conducted. Molecular analysis and high-throughput DNA sequence analysis were performed. The proband was diagnosed with possible BBS based on the presence of three primary features and two secondary features. The TES analysis of the proband with BBS resulted in the identification of a novel, homozygous splicing variant c. 208+2T&gt;C of the BBS5 gene (NM_152384.2) in this Iranian BBS family. This variant was confirmed and was completely co-segregated with the disease in this family by Sanger sequencing. Thus, we report a novel, homozygous splicing site variant c.208+2T&gt;C in the BBS5 gene for the first time in the Iranian family.</jats:p> |
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| description | <jats:title>Abstract</jats:title><jats:p>Bardet–Biedl syndrome (BBS) is a rare genetically heterogeneous ciliopathy which accompanies retinitis pigmentosa (RP). However, the BBS5 mutation remains unclear in Iranians with BBS. The purpose of study is to evaluate genetic analyses of a BBS Iranian family using targetted exome sequencing (TES). A male 11-year-old proband and three related family members were recruited. Biochemical tests, electrocardiography and visual acuity testing, such as funduscopic, fundus photography (FP), optical coherence tomography (OCT), and standard electroretinography, were conducted. Molecular analysis and high-throughput DNA sequence analysis were performed. The proband was diagnosed with possible BBS based on the presence of three primary features and two secondary features. The TES analysis of the proband with BBS resulted in the identification of a novel, homozygous splicing variant c. 208+2T&gt;C of the BBS5 gene (NM_152384.2) in this Iranian BBS family. This variant was confirmed and was completely co-segregated with the disease in this family by Sanger sequencing. Thus, we report a novel, homozygous splicing site variant c.208+2T&gt;C in the BBS5 gene for the first time in the Iranian family.</jats:p> |
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| spelling | Imani, Saber Cheng, Jingliang Fu, Jiewen Mobasher-Jannat, Abdolkarim Wei, Chunli Mohazzab-Torabi, Saman Jadidi, Khosrow Khosravi, Mohammad Hossein Shasaltaneh, Marzieh Dehghan Yang, Lisha Khan, Md. Asaduzzaman Fu, Junjiang 0144-8463 1573-4935 Portland Press Ltd. Cell Biology Molecular Biology Biochemistry Biophysics http://dx.doi.org/10.1042/bsr20181544 <jats:title>Abstract</jats:title><jats:p>Bardet–Biedl syndrome (BBS) is a rare genetically heterogeneous ciliopathy which accompanies retinitis pigmentosa (RP). However, the BBS5 mutation remains unclear in Iranians with BBS. The purpose of study is to evaluate genetic analyses of a BBS Iranian family using targetted exome sequencing (TES). A male 11-year-old proband and three related family members were recruited. Biochemical tests, electrocardiography and visual acuity testing, such as funduscopic, fundus photography (FP), optical coherence tomography (OCT), and standard electroretinography, were conducted. Molecular analysis and high-throughput DNA sequence analysis were performed. The proband was diagnosed with possible BBS based on the presence of three primary features and two secondary features. The TES analysis of the proband with BBS resulted in the identification of a novel, homozygous splicing variant c. 208+2T&gt;C of the BBS5 gene (NM_152384.2) in this Iranian BBS family. This variant was confirmed and was completely co-segregated with the disease in this family by Sanger sequencing. Thus, we report a novel, homozygous splicing site variant c.208+2T&gt;C in the BBS5 gene for the first time in the Iranian family.</jats:p> Novel splicing variant c. 208+2T>C in<i>BBS5</i>segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing Bioscience Reports |
| spellingShingle | Imani, Saber, Cheng, Jingliang, Fu, Jiewen, Mobasher-Jannat, Abdolkarim, Wei, Chunli, Mohazzab-Torabi, Saman, Jadidi, Khosrow, Khosravi, Mohammad Hossein, Shasaltaneh, Marzieh Dehghan, Yang, Lisha, Khan, Md. Asaduzzaman, Fu, Junjiang, Bioscience Reports, Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing, Cell Biology, Molecular Biology, Biochemistry, Biophysics |
| title | Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing |
| title_full | Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing |
| title_fullStr | Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing |
| title_full_unstemmed | Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing |
| title_short | Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing |
| title_sort | novel splicing variant c. 208+2t>c in<i>bbs5</i>segregates with bardet–biedl syndrome in an iranian family by targeted exome sequencing |
| title_unstemmed | Novel splicing variant c. 208+2T>C inBBS5segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing |
| topic | Cell Biology, Molecular Biology, Biochemistry, Biophysics |
| url | http://dx.doi.org/10.1042/bsr20181544 |