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Nail-patella syndrome : Identification of mutations in the LMX1B gene in Dutch families
Nail-patella syndrome is an autosomal dominant disorder characterized by dyplasia of finger nails, skeletal anomalies, and, frequently, renal disease. It has recently been shown that this disorder is caused by putative loss-of-function mutations in a transcription factor (LMX1B) belonging to the LIM...
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| Published in: | Journal of the American Society of Nephrology 2000-09, Vol.11 (9), p.1762-1766 |
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| container_end_page | 1766 |
| container_issue | 9 |
| container_start_page | 1762 |
| container_title | Journal of the American Society of Nephrology |
| container_volume | 11 |
| creator | KNOERS, Nine V. A. M BONGERS, Ernie M. H. F VAN BEERSUM, Sylvia E. C LOMMEN, E. D. J. P VAN BOKHOVEN, Hans HOL, Frans A |
| description | Nail-patella syndrome is an autosomal dominant disorder characterized by dyplasia of finger nails, skeletal anomalies, and, frequently, renal disease. It has recently been shown that this disorder is caused by putative loss-of-function mutations in a transcription factor (LMX1B) belonging to the LIM-homeodomain family, members of which are known to be important for pattern formation during development. A cohort of eight Dutch NPS families were screened for mutations in the LMX1B gene; seven different mutations, including one novel variant, were identified. Three of the mutations are very likely to result in truncated LMX1B proteins, three are predicted to influence sequence-specific DNA binding, and one is presumed to prevent the formation of a stable protein by abolishing the Zn(II) binding site of the protein. Although there was a remarkable high incidence of renal disease in one of the families, the nephropathy was not seen in all affected family members and the severity of renal impairment varied significantly among the patients. This indicates that the incidence and severity of nephropathy within this family cannot be attributed to the LMX1B genotype. In addition, evidence of a correlation between other characteristics of the NPS phenotype and specific mutations has not been found. |
| doi_str_mv | 10.1681/ASN.V1191762 |
| format | article |
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A. M ; BONGERS, Ernie M. H. F ; VAN BEERSUM, Sylvia E. C ; LOMMEN, E. D. J. P ; VAN BOKHOVEN, Hans ; HOL, Frans A</creator><creatorcontrib>KNOERS, Nine V. A. M ; BONGERS, Ernie M. H. F ; VAN BEERSUM, Sylvia E. C ; LOMMEN, E. D. J. P ; VAN BOKHOVEN, Hans ; HOL, Frans A</creatorcontrib><description>Nail-patella syndrome is an autosomal dominant disorder characterized by dyplasia of finger nails, skeletal anomalies, and, frequently, renal disease. It has recently been shown that this disorder is caused by putative loss-of-function mutations in a transcription factor (LMX1B) belonging to the LIM-homeodomain family, members of which are known to be important for pattern formation during development. A cohort of eight Dutch NPS families were screened for mutations in the LMX1B gene; seven different mutations, including one novel variant, were identified. Three of the mutations are very likely to result in truncated LMX1B proteins, three are predicted to influence sequence-specific DNA binding, and one is presumed to prevent the formation of a stable protein by abolishing the Zn(II) binding site of the protein. Although there was a remarkable high incidence of renal disease in one of the families, the nephropathy was not seen in all affected family members and the severity of renal impairment varied significantly among the patients. This indicates that the incidence and severity of nephropathy within this family cannot be attributed to the LMX1B genotype. In addition, evidence of a correlation between other characteristics of the NPS phenotype and specific mutations has not been found.</description><identifier>ISSN: 1046-6673</identifier><identifier>EISSN: 1533-3450</identifier><identifier>DOI: 10.1681/ASN.V1191762</identifier><identifier>PMID: 10966502</identifier><identifier>CODEN: JASNEU</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Base Sequence - genetics ; Biological and medical sciences ; Cohort Studies ; Diseases of the osteoarticular system ; Homeodomain Proteins - genetics ; Humans ; Kidney Diseases - complications ; LIM-Homeodomain Proteins ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical sciences ; Mutation - genetics ; Nail-Patella Syndrome - complications ; Nail-Patella Syndrome - genetics ; Nail-Patella Syndrome - pathology ; Nail-Patella Syndrome - physiopathology ; Netherlands ; Transcription Factors</subject><ispartof>Journal of the American Society of Nephrology, 2000-09, Vol.11 (9), p.1762-1766</ispartof><rights>2000 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,786,790,27957,27958</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1499476$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10966502$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>KNOERS, Nine V. A. M</creatorcontrib><creatorcontrib>BONGERS, Ernie M. H. F</creatorcontrib><creatorcontrib>VAN BEERSUM, Sylvia E. C</creatorcontrib><creatorcontrib>LOMMEN, E. D. J. P</creatorcontrib><creatorcontrib>VAN BOKHOVEN, Hans</creatorcontrib><creatorcontrib>HOL, Frans A</creatorcontrib><title>Nail-patella syndrome : Identification of mutations in the LMX1B gene in Dutch families</title><title>Journal of the American Society of Nephrology</title><addtitle>J Am Soc Nephrol</addtitle><description>Nail-patella syndrome is an autosomal dominant disorder characterized by dyplasia of finger nails, skeletal anomalies, and, frequently, renal disease. It has recently been shown that this disorder is caused by putative loss-of-function mutations in a transcription factor (LMX1B) belonging to the LIM-homeodomain family, members of which are known to be important for pattern formation during development. A cohort of eight Dutch NPS families were screened for mutations in the LMX1B gene; seven different mutations, including one novel variant, were identified. Three of the mutations are very likely to result in truncated LMX1B proteins, three are predicted to influence sequence-specific DNA binding, and one is presumed to prevent the formation of a stable protein by abolishing the Zn(II) binding site of the protein. Although there was a remarkable high incidence of renal disease in one of the families, the nephropathy was not seen in all affected family members and the severity of renal impairment varied significantly among the patients. This indicates that the incidence and severity of nephropathy within this family cannot be attributed to the LMX1B genotype. In addition, evidence of a correlation between other characteristics of the NPS phenotype and specific mutations has not been found.</description><subject>Base Sequence - genetics</subject><subject>Biological and medical sciences</subject><subject>Cohort Studies</subject><subject>Diseases of the osteoarticular system</subject><subject>Homeodomain Proteins - genetics</subject><subject>Humans</subject><subject>Kidney Diseases - complications</subject><subject>LIM-Homeodomain Proteins</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><subject>Mutation - genetics</subject><subject>Nail-Patella Syndrome - complications</subject><subject>Nail-Patella Syndrome - genetics</subject><subject>Nail-Patella Syndrome - pathology</subject><subject>Nail-Patella Syndrome - physiopathology</subject><subject>Netherlands</subject><subject>Transcription Factors</subject><issn>1046-6673</issn><issn>1533-3450</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><recordid>eNpNkDtPwzAURi0EglLYmJEHxESKHTt2zFbKq1IpA88tsp1rMMqjxMnQf09Ki2C6n-49-qR7EDqiZERFSs_Hj_PRC6WKShFvoQFNGIsYT8h2nwkXkRCS7aH9ED4JoUks5S7ao0QJkZB4gF7n2hfRQrdQFBqHZZU3dQn4Ak9zqFrvvNWtrytcO1x27U8O2Fe4_QA8u3-jl_gdKlhtrrrWfmCnS194CAdox-kiwOFmDtHzzfXT5C6aPdxOJ-NZZGPJ2giIYglXIHIJjBnOwHCbSuOII5IbkVtjCBilchunFKQ2qeqPqUwS6nKt2BCdrnsXTf3VQWiz0ge7eqaCuguZjOOYU8V68GwN2qYOoQGXLRpf6maZUZKtRGa9yOxXZI8fb3o7U0L-D16b64GTDaCD1YVrdGV9-OO4UlwK9g2Yo3qQ</recordid><startdate>20000901</startdate><enddate>20000901</enddate><creator>KNOERS, Nine V. A. M</creator><creator>BONGERS, Ernie M. H. F</creator><creator>VAN BEERSUM, Sylvia E. C</creator><creator>LOMMEN, E. D. J. P</creator><creator>VAN BOKHOVEN, Hans</creator><creator>HOL, Frans A</creator><general>Lippincott Williams & Wilkins</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20000901</creationdate><title>Nail-patella syndrome : Identification of mutations in the LMX1B gene in Dutch families</title><author>KNOERS, Nine V. A. M ; BONGERS, Ernie M. H. F ; VAN BEERSUM, Sylvia E. C ; LOMMEN, E. D. J. P ; VAN BOKHOVEN, Hans ; HOL, Frans A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c273t-e093549e6d7e33b43eb4c87bf0f074b6dcbb0eb99dc281e7ab89bf087551fda93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Base Sequence - genetics</topic><topic>Biological and medical sciences</topic><topic>Cohort Studies</topic><topic>Diseases of the osteoarticular system</topic><topic>Homeodomain Proteins - genetics</topic><topic>Humans</topic><topic>Kidney Diseases - complications</topic><topic>LIM-Homeodomain Proteins</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical sciences</topic><topic>Mutation - genetics</topic><topic>Nail-Patella Syndrome - complications</topic><topic>Nail-Patella Syndrome - genetics</topic><topic>Nail-Patella Syndrome - pathology</topic><topic>Nail-Patella Syndrome - physiopathology</topic><topic>Netherlands</topic><topic>Transcription Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>KNOERS, Nine V. A. M</creatorcontrib><creatorcontrib>BONGERS, Ernie M. H. F</creatorcontrib><creatorcontrib>VAN BEERSUM, Sylvia E. C</creatorcontrib><creatorcontrib>LOMMEN, E. D. J. P</creatorcontrib><creatorcontrib>VAN BOKHOVEN, Hans</creatorcontrib><creatorcontrib>HOL, Frans A</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the American Society of Nephrology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>KNOERS, Nine V. A. M</au><au>BONGERS, Ernie M. H. F</au><au>VAN BEERSUM, Sylvia E. C</au><au>LOMMEN, E. D. J. P</au><au>VAN BOKHOVEN, Hans</au><au>HOL, Frans A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Nail-patella syndrome : Identification of mutations in the LMX1B gene in Dutch families</atitle><jtitle>Journal of the American Society of Nephrology</jtitle><addtitle>J Am Soc Nephrol</addtitle><date>2000-09-01</date><risdate>2000</risdate><volume>11</volume><issue>9</issue><spage>1762</spage><epage>1766</epage><pages>1762-1766</pages><issn>1046-6673</issn><eissn>1533-3450</eissn><coden>JASNEU</coden><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>Nail-patella syndrome is an autosomal dominant disorder characterized by dyplasia of finger nails, skeletal anomalies, and, frequently, renal disease. It has recently been shown that this disorder is caused by putative loss-of-function mutations in a transcription factor (LMX1B) belonging to the LIM-homeodomain family, members of which are known to be important for pattern formation during development. A cohort of eight Dutch NPS families were screened for mutations in the LMX1B gene; seven different mutations, including one novel variant, were identified. Three of the mutations are very likely to result in truncated LMX1B proteins, three are predicted to influence sequence-specific DNA binding, and one is presumed to prevent the formation of a stable protein by abolishing the Zn(II) binding site of the protein. Although there was a remarkable high incidence of renal disease in one of the families, the nephropathy was not seen in all affected family members and the severity of renal impairment varied significantly among the patients. This indicates that the incidence and severity of nephropathy within this family cannot be attributed to the LMX1B genotype. In addition, evidence of a correlation between other characteristics of the NPS phenotype and specific mutations has not been found.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins</pub><pmid>10966502</pmid><doi>10.1681/ASN.V1191762</doi><tpages>5</tpages></addata></record> |
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| issn | 1046-6673 1533-3450 |
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| source | EZB Electronic Journals Library |
| subjects | Base Sequence - genetics Biological and medical sciences Cohort Studies Diseases of the osteoarticular system Homeodomain Proteins - genetics Humans Kidney Diseases - complications LIM-Homeodomain Proteins Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Mutation - genetics Nail-Patella Syndrome - complications Nail-Patella Syndrome - genetics Nail-Patella Syndrome - pathology Nail-Patella Syndrome - physiopathology Netherlands Transcription Factors |
| title | Nail-patella syndrome : Identification of mutations in the LMX1B gene in Dutch families |
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