Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy
To identify novel mutations in FZD4 gene that cause familial exudative vitreoretinopathy (FEVR) in Indian patients. The study was conducted on 75 subjects from 53 Indian families. These families were clinically diagnosed to have FEVR by fundus examination and fluorescein angiography. The candidate g...
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| Veröffentlicht in: | Molecular vision 2006-09, Vol.12, p.1086-1092 |
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| container_title | Molecular vision |
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| creator | Nallathambi, Jeyabalan Shukla, Dhananjay Rajendran, Anand Namperumalsamy, Perumalsamy Muthulakshmi, Ramakrishnan Sundaresan, Periasamy |
| description | To identify novel mutations in FZD4 gene that cause familial exudative vitreoretinopathy (FEVR) in Indian patients.
The study was conducted on 75 subjects from 53 Indian families. These families were clinically diagnosed to have FEVR by fundus examination and fluorescein angiography. The candidate gene FZD4 was amplified from genomic DNA and PCR products were screened for mutations by single strand conformational polymorphism (PCR-SSCP), TA-cloning followed by bi-directional sequencing.
For the FZD4 exonic region, three mutations were identified, including two novel sequence variations (C204R, F82fsX135) and one reported (P33S) mutation. These sequence changes were not observed in 100 normal controls and clinically unaffected family members analyzed.
Mutations in FZD4 were observed in 5.6% of the clinically diagnosed FEVR, in the studied Indian population. The identified genetic variations of FZD4 could play a vital role in pathogenesis and provide greater insight in to the genotype/phenotypic functions of FZD4 gene. |
| format | Article |
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The study was conducted on 75 subjects from 53 Indian families. These families were clinically diagnosed to have FEVR by fundus examination and fluorescein angiography. The candidate gene FZD4 was amplified from genomic DNA and PCR products were screened for mutations by single strand conformational polymorphism (PCR-SSCP), TA-cloning followed by bi-directional sequencing.
For the FZD4 exonic region, three mutations were identified, including two novel sequence variations (C204R, F82fsX135) and one reported (P33S) mutation. These sequence changes were not observed in 100 normal controls and clinically unaffected family members analyzed.
Mutations in FZD4 were observed in 5.6% of the clinically diagnosed FEVR, in the studied Indian population. The identified genetic variations of FZD4 could play a vital role in pathogenesis and provide greater insight in to the genotype/phenotypic functions of FZD4 gene.</description><identifier>EISSN: 1090-0535</identifier><identifier>PMID: 17093393</identifier><language>eng</language><publisher>United States</publisher><subject>Adolescent ; Adult ; Amino Acid Sequence ; Arginine ; Asian Continental Ancestry Group - genetics ; Cysteine ; Exons ; Exudates and Transudates - metabolism ; Eye Diseases - diagnosis ; Eye Diseases - genetics ; Eye Diseases - metabolism ; Fluorescein Angiography ; Frizzled Receptors - genetics ; Fundus Oculi ; Humans ; India ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Pedigree ; Phenylalanine ; Proline ; Receptors, G-Protein-Coupled - genetics ; Retinal Diseases - diagnosis ; Retinal Diseases - genetics ; Retinal Diseases - metabolism ; Serine ; Vitreous Body</subject><ispartof>Molecular vision, 2006-09, Vol.12, p.1086-1092</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17093393$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nallathambi, Jeyabalan</creatorcontrib><creatorcontrib>Shukla, Dhananjay</creatorcontrib><creatorcontrib>Rajendran, Anand</creatorcontrib><creatorcontrib>Namperumalsamy, Perumalsamy</creatorcontrib><creatorcontrib>Muthulakshmi, Ramakrishnan</creatorcontrib><creatorcontrib>Sundaresan, Periasamy</creatorcontrib><title>Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy</title><title>Molecular vision</title><addtitle>Mol Vis</addtitle><description>To identify novel mutations in FZD4 gene that cause familial exudative vitreoretinopathy (FEVR) in Indian patients.
The study was conducted on 75 subjects from 53 Indian families. These families were clinically diagnosed to have FEVR by fundus examination and fluorescein angiography. The candidate gene FZD4 was amplified from genomic DNA and PCR products were screened for mutations by single strand conformational polymorphism (PCR-SSCP), TA-cloning followed by bi-directional sequencing.
For the FZD4 exonic region, three mutations were identified, including two novel sequence variations (C204R, F82fsX135) and one reported (P33S) mutation. These sequence changes were not observed in 100 normal controls and clinically unaffected family members analyzed.
Mutations in FZD4 were observed in 5.6% of the clinically diagnosed FEVR, in the studied Indian population. The identified genetic variations of FZD4 could play a vital role in pathogenesis and provide greater insight in to the genotype/phenotypic functions of FZD4 gene.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Amino Acid Sequence</subject><subject>Arginine</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Cysteine</subject><subject>Exons</subject><subject>Exudates and Transudates - metabolism</subject><subject>Eye Diseases - diagnosis</subject><subject>Eye Diseases - genetics</subject><subject>Eye Diseases - metabolism</subject><subject>Fluorescein Angiography</subject><subject>Frizzled Receptors - genetics</subject><subject>Fundus Oculi</subject><subject>Humans</subject><subject>India</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Phenylalanine</subject><subject>Proline</subject><subject>Receptors, G-Protein-Coupled - genetics</subject><subject>Retinal Diseases - diagnosis</subject><subject>Retinal Diseases - genetics</subject><subject>Retinal Diseases - metabolism</subject><subject>Serine</subject><subject>Vitreous Body</subject><issn>1090-0535</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kE9PwzAMxSMkxMbgK6CcuFVymv7LEQ0GlSZxgQuXKk0dLahNSpMW9u0JMC5-9vPv-eAzsmYgIIGc5yty6f07QMryrLwgK1aC4FzwNVF1hzYYbZQMxlnqNLVuwZ7u3u4zOszh1_bUWFrbzkhLx-jEiKefJhyoloPpjewpfs1d3CxIFxMmdBMGY12ED8crcq5l7_H6pBvyunt42T4l--fHenu3T0bGRUi0yDUo1WYgM44geaWVaCHlvI2daktW8VRC0RYV7zLGJKhY4qQFKzHP-Ibc_t0dJ_cxow_NYLzCvpcW3eybomJpCcUPeHMC53bArhknM8jp2Py_hX8DRyhfVg</recordid><startdate>20060921</startdate><enddate>20060921</enddate><creator>Nallathambi, Jeyabalan</creator><creator>Shukla, Dhananjay</creator><creator>Rajendran, Anand</creator><creator>Namperumalsamy, Perumalsamy</creator><creator>Muthulakshmi, Ramakrishnan</creator><creator>Sundaresan, Periasamy</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>20060921</creationdate><title>Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy</title><author>Nallathambi, Jeyabalan ; Shukla, Dhananjay ; Rajendran, Anand ; Namperumalsamy, Perumalsamy ; Muthulakshmi, Ramakrishnan ; Sundaresan, Periasamy</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p139t-f95f0ccb40a43e0a38fc9b0233b8fccb71832a06b683d411a0c11ab68f917e543</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Amino Acid Sequence</topic><topic>Arginine</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Cysteine</topic><topic>Exons</topic><topic>Exudates and Transudates - metabolism</topic><topic>Eye Diseases - diagnosis</topic><topic>Eye Diseases - genetics</topic><topic>Eye Diseases - metabolism</topic><topic>Fluorescein Angiography</topic><topic>Frizzled Receptors - genetics</topic><topic>Fundus Oculi</topic><topic>Humans</topic><topic>India</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Phenylalanine</topic><topic>Proline</topic><topic>Receptors, G-Protein-Coupled - genetics</topic><topic>Retinal Diseases - diagnosis</topic><topic>Retinal Diseases - genetics</topic><topic>Retinal Diseases - metabolism</topic><topic>Serine</topic><topic>Vitreous Body</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nallathambi, Jeyabalan</creatorcontrib><creatorcontrib>Shukla, Dhananjay</creatorcontrib><creatorcontrib>Rajendran, Anand</creatorcontrib><creatorcontrib>Namperumalsamy, Perumalsamy</creatorcontrib><creatorcontrib>Muthulakshmi, Ramakrishnan</creatorcontrib><creatorcontrib>Sundaresan, Periasamy</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Molecular vision</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nallathambi, Jeyabalan</au><au>Shukla, Dhananjay</au><au>Rajendran, Anand</au><au>Namperumalsamy, Perumalsamy</au><au>Muthulakshmi, Ramakrishnan</au><au>Sundaresan, Periasamy</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy</atitle><jtitle>Molecular vision</jtitle><addtitle>Mol Vis</addtitle><date>2006-09-21</date><risdate>2006</risdate><volume>12</volume><spage>1086</spage><epage>1092</epage><pages>1086-1092</pages><eissn>1090-0535</eissn><abstract>To identify novel mutations in FZD4 gene that cause familial exudative vitreoretinopathy (FEVR) in Indian patients.
The study was conducted on 75 subjects from 53 Indian families. These families were clinically diagnosed to have FEVR by fundus examination and fluorescein angiography. The candidate gene FZD4 was amplified from genomic DNA and PCR products were screened for mutations by single strand conformational polymorphism (PCR-SSCP), TA-cloning followed by bi-directional sequencing.
For the FZD4 exonic region, three mutations were identified, including two novel sequence variations (C204R, F82fsX135) and one reported (P33S) mutation. These sequence changes were not observed in 100 normal controls and clinically unaffected family members analyzed.
Mutations in FZD4 were observed in 5.6% of the clinically diagnosed FEVR, in the studied Indian population. The identified genetic variations of FZD4 could play a vital role in pathogenesis and provide greater insight in to the genotype/phenotypic functions of FZD4 gene.</abstract><cop>United States</cop><pmid>17093393</pmid><tpages>7</tpages></addata></record> |
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| ispartof | Molecular vision, 2006-09, Vol.12, p.1086-1092 |
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| subjects | Adolescent Adult Amino Acid Sequence Arginine Asian Continental Ancestry Group - genetics Cysteine Exons Exudates and Transudates - metabolism Eye Diseases - diagnosis Eye Diseases - genetics Eye Diseases - metabolism Fluorescein Angiography Frizzled Receptors - genetics Fundus Oculi Humans India Male Middle Aged Molecular Sequence Data Mutation Pedigree Phenylalanine Proline Receptors, G-Protein-Coupled - genetics Retinal Diseases - diagnosis Retinal Diseases - genetics Retinal Diseases - metabolism Serine Vitreous Body |
| title | Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy |
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