Renal complications in 6p duplication syndrome: Microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)
6p duplication syndrome is a rare chromosomal disorder that frequently manifests renal complications, including proteinuria, hypoplastic kidney, and hydronephrosis. We report a girl with the syndrome, manifesting left hydronephrosis, proteinuria/hematuria, and focal segmental glomerular sclerosis (F...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2015-03, Vol.167A (3), p.592-601 |
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| creator | Yoshimura-Furuhata, Megumi Nishimura-Tadaki, Akira Amano, Yoshiro Ehara, Takashi Hamasaki, Yuko Muramatsu, Masaki Shishido, Seiichiro Aikawa, Atsushi Hamada, Riku Ishikura, Kenji Hataya, Hiroshi Hidaka, Yoshihiko Noda, Shunsuke Koike, Kenichi Wakui, Keiko Fukushima, Yoshimitsu Matsumoto, Naomichi Awazu, Midori Miyake, Noriko Kosho, Tomoki |
| description | 6p duplication syndrome is a rare chromosomal disorder that frequently manifests renal complications, including proteinuria, hypoplastic kidney, and hydronephrosis. We report a girl with the syndrome, manifesting left hydronephrosis, proteinuria/hematuria, and focal segmental glomerular sclerosis (FSGS) resulting in chronic end‐stage renal failure, successfully treated with renal transplantation. Microarray comparative genomic hybridization showed the derivative chromosome 6 to have a 6.4‐Mb duplication at 6p25.3–p25.1 with 32 protein‐coding genes and a 220‐Kb deletion at 6p25.3 with two genes of no possible relation to the renal pathology. Review of the literature shows that variation of renal complications in the syndrome is compatible with congenital anomalies of the kidney and urinary tract (CAKUT). FSGS, observed in another patient with 6p duplication syndrome, could be a non‐coincidental complication. FOXC1, located within the 6.4‐Mb duplicated region at 6p25.3–p25.2, could be a candidate gene for CAKUT, but its single gene duplication effect would not be sufficient. FSGS would be a primary defect associated with duplicated gene(s) albeit no candidate could be proposed, or might occur in association with CAKUT. © 2015 Wiley Periodicals, Inc. |
| doi_str_mv | 10.1002/ajmg.a.36942 |
| format | Article |
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We report a girl with the syndrome, manifesting left hydronephrosis, proteinuria/hematuria, and focal segmental glomerular sclerosis (FSGS) resulting in chronic end‐stage renal failure, successfully treated with renal transplantation. Microarray comparative genomic hybridization showed the derivative chromosome 6 to have a 6.4‐Mb duplication at 6p25.3–p25.1 with 32 protein‐coding genes and a 220‐Kb deletion at 6p25.3 with two genes of no possible relation to the renal pathology. Review of the literature shows that variation of renal complications in the syndrome is compatible with congenital anomalies of the kidney and urinary tract (CAKUT). FSGS, observed in another patient with 6p duplication syndrome, could be a non‐coincidental complication. FOXC1, located within the 6.4‐Mb duplicated region at 6p25.3–p25.2, could be a candidate gene for CAKUT, but its single gene duplication effect would not be sufficient. FSGS would be a primary defect associated with duplicated gene(s) albeit no candidate could be proposed, or might occur in association with CAKUT. © 2015 Wiley Periodicals, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.36942</identifier><identifier>PMID: 25691411</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>6p duplication syndrome ; Abnormalities, Multiple - diagnosis ; Abnormalities, Multiple - genetics ; Biopsy ; Child ; Chromosome Banding ; Chromosomes, Human, Pair 6 ; Comparative Genomic Hybridization ; congenital anomalies of kidney and urinary tract (CAKUT) ; Facies ; Female ; focal segmental glomerular sclerosis (FSGS) ; forkhead transcription factor 1 (FOXC1) ; Genome-Wide Association Study ; Glomerulosclerosis, Focal Segmental - diagnosis ; Glomerulosclerosis, Focal Segmental - genetics ; Humans ; Hydronephrosis - diagnosis ; Hydronephrosis - genetics ; Kidney - abnormalities ; Kidney - pathology ; microarray comparative genomic hybridization ; Proteinuria - diagnosis ; Proteinuria - genetics ; Syndrome ; Trisomy ; Ultrasonography ; Urinary Tract - abnormalities</subject><ispartof>American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.592-601</ispartof><rights>2015 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5012-a75e6cba3a5d007ebee2c99489bc10fced0b428a3304c3944fef053f311761173</citedby><cites>FETCH-LOGICAL-c5012-a75e6cba3a5d007ebee2c99489bc10fced0b428a3304c3944fef053f311761173</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.36942$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.36942$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25691411$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yoshimura-Furuhata, Megumi</creatorcontrib><creatorcontrib>Nishimura-Tadaki, Akira</creatorcontrib><creatorcontrib>Amano, Yoshiro</creatorcontrib><creatorcontrib>Ehara, Takashi</creatorcontrib><creatorcontrib>Hamasaki, Yuko</creatorcontrib><creatorcontrib>Muramatsu, Masaki</creatorcontrib><creatorcontrib>Shishido, Seiichiro</creatorcontrib><creatorcontrib>Aikawa, Atsushi</creatorcontrib><creatorcontrib>Hamada, Riku</creatorcontrib><creatorcontrib>Ishikura, Kenji</creatorcontrib><creatorcontrib>Hataya, Hiroshi</creatorcontrib><creatorcontrib>Hidaka, Yoshihiko</creatorcontrib><creatorcontrib>Noda, Shunsuke</creatorcontrib><creatorcontrib>Koike, Kenichi</creatorcontrib><creatorcontrib>Wakui, Keiko</creatorcontrib><creatorcontrib>Fukushima, Yoshimitsu</creatorcontrib><creatorcontrib>Matsumoto, Naomichi</creatorcontrib><creatorcontrib>Awazu, Midori</creatorcontrib><creatorcontrib>Miyake, Noriko</creatorcontrib><creatorcontrib>Kosho, Tomoki</creatorcontrib><title>Renal complications in 6p duplication syndrome: Microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)</title><title>American journal of medical genetics. Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>6p duplication syndrome is a rare chromosomal disorder that frequently manifests renal complications, including proteinuria, hypoplastic kidney, and hydronephrosis. We report a girl with the syndrome, manifesting left hydronephrosis, proteinuria/hematuria, and focal segmental glomerular sclerosis (FSGS) resulting in chronic end‐stage renal failure, successfully treated with renal transplantation. Microarray comparative genomic hybridization showed the derivative chromosome 6 to have a 6.4‐Mb duplication at 6p25.3–p25.1 with 32 protein‐coding genes and a 220‐Kb deletion at 6p25.3 with two genes of no possible relation to the renal pathology. Review of the literature shows that variation of renal complications in the syndrome is compatible with congenital anomalies of the kidney and urinary tract (CAKUT). FSGS, observed in another patient with 6p duplication syndrome, could be a non‐coincidental complication. FOXC1, located within the 6.4‐Mb duplicated region at 6p25.3–p25.2, could be a candidate gene for CAKUT, but its single gene duplication effect would not be sufficient. FSGS would be a primary defect associated with duplicated gene(s) albeit no candidate could be proposed, or might occur in association with CAKUT. © 2015 Wiley Periodicals, Inc.</description><subject>6p duplication syndrome</subject><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Biopsy</subject><subject>Child</subject><subject>Chromosome Banding</subject><subject>Chromosomes, Human, Pair 6</subject><subject>Comparative Genomic Hybridization</subject><subject>congenital anomalies of kidney and urinary tract (CAKUT)</subject><subject>Facies</subject><subject>Female</subject><subject>focal segmental glomerular sclerosis (FSGS)</subject><subject>forkhead transcription factor 1 (FOXC1)</subject><subject>Genome-Wide Association Study</subject><subject>Glomerulosclerosis, Focal Segmental - diagnosis</subject><subject>Glomerulosclerosis, Focal Segmental - genetics</subject><subject>Humans</subject><subject>Hydronephrosis - diagnosis</subject><subject>Hydronephrosis - genetics</subject><subject>Kidney - abnormalities</subject><subject>Kidney - pathology</subject><subject>microarray comparative genomic hybridization</subject><subject>Proteinuria - diagnosis</subject><subject>Proteinuria - genetics</subject><subject>Syndrome</subject><subject>Trisomy</subject><subject>Ultrasonography</subject><subject>Urinary Tract - abnormalities</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkk1vEzEQhlcIREvgxhlZ4pJIbLDXa2-WW5TS8NGASls4Wl7vbHDqtYO9W8hv5k_gJE0OHBAHy6OZZ16NZt4keU7wmGCcvZardjmWY8rLPHuQnBLGsjSfUPrwGGfsJHkSwgpjilnBHycnGeMlyQk5TX5_ASsNUq5dG61kp50NSFvE16jujykUNrb2roU3aKGVd9J7uUkrGaCO8B2ETi_3oGtQ9x2QkrbWtewALcHCMIxQ4_yuUsMdGLduwXZbWDkbCd3FGaR1rTQawkHkVtcWNjFfo95rK_0GdV6qDg1n048316NdpXEq9gZYbhVjtDRxTN8b6VFQBrwLOqDh-dX8avQ0edRIE-DZ_T9Ibs7fXs_epRef5-9n04tUMUyyVBYMuKoklazGuIAKIFNlmU_KShHcKKhxlWcTSSnOFS3zvIEGM9pQQgoeHx0kw73u2rsffVyOaHVQYIy04PogCOeYlhOW0f9AWUEzNqE8oi__Qleu9_F4O4pxWm7ZQfJqT8UrheChEWuv27g6QbDY-kVs_SKk2Pkl4i_uRfuqhfoIHwwSgXwP_NQGNv8UE9MPi_n0oJvu23To4NexTfpbwQtaMPHt01zkXy_PzrLiUizoH1Up3tU</recordid><startdate>201503</startdate><enddate>201503</enddate><creator>Yoshimura-Furuhata, Megumi</creator><creator>Nishimura-Tadaki, Akira</creator><creator>Amano, Yoshiro</creator><creator>Ehara, Takashi</creator><creator>Hamasaki, Yuko</creator><creator>Muramatsu, Masaki</creator><creator>Shishido, Seiichiro</creator><creator>Aikawa, Atsushi</creator><creator>Hamada, Riku</creator><creator>Ishikura, Kenji</creator><creator>Hataya, Hiroshi</creator><creator>Hidaka, Yoshihiko</creator><creator>Noda, Shunsuke</creator><creator>Koike, Kenichi</creator><creator>Wakui, Keiko</creator><creator>Fukushima, Yoshimitsu</creator><creator>Matsumoto, Naomichi</creator><creator>Awazu, Midori</creator><creator>Miyake, Noriko</creator><creator>Kosho, Tomoki</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</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>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201503</creationdate><title>Renal complications in 6p duplication syndrome: Microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)</title><author>Yoshimura-Furuhata, Megumi ; Nishimura-Tadaki, Akira ; Amano, Yoshiro ; Ehara, Takashi ; Hamasaki, Yuko ; Muramatsu, Masaki ; Shishido, Seiichiro ; Aikawa, Atsushi ; Hamada, Riku ; Ishikura, Kenji ; Hataya, Hiroshi ; Hidaka, Yoshihiko ; Noda, Shunsuke ; Koike, Kenichi ; Wakui, Keiko ; Fukushima, Yoshimitsu ; Matsumoto, Naomichi ; Awazu, Midori ; Miyake, Noriko ; Kosho, Tomoki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5012-a75e6cba3a5d007ebee2c99489bc10fced0b428a3304c3944fef053f311761173</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>6p duplication syndrome</topic><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Biopsy</topic><topic>Child</topic><topic>Chromosome Banding</topic><topic>Chromosomes, Human, Pair 6</topic><topic>Comparative Genomic Hybridization</topic><topic>congenital anomalies of kidney and urinary tract (CAKUT)</topic><topic>Facies</topic><topic>Female</topic><topic>focal segmental glomerular sclerosis (FSGS)</topic><topic>forkhead transcription factor 1 (FOXC1)</topic><topic>Genome-Wide Association Study</topic><topic>Glomerulosclerosis, Focal Segmental - diagnosis</topic><topic>Glomerulosclerosis, Focal Segmental - genetics</topic><topic>Humans</topic><topic>Hydronephrosis - diagnosis</topic><topic>Hydronephrosis - genetics</topic><topic>Kidney - abnormalities</topic><topic>Kidney - pathology</topic><topic>microarray comparative genomic hybridization</topic><topic>Proteinuria - diagnosis</topic><topic>Proteinuria - genetics</topic><topic>Syndrome</topic><topic>Trisomy</topic><topic>Ultrasonography</topic><topic>Urinary Tract - abnormalities</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yoshimura-Furuhata, Megumi</creatorcontrib><creatorcontrib>Nishimura-Tadaki, Akira</creatorcontrib><creatorcontrib>Amano, Yoshiro</creatorcontrib><creatorcontrib>Ehara, Takashi</creatorcontrib><creatorcontrib>Hamasaki, Yuko</creatorcontrib><creatorcontrib>Muramatsu, Masaki</creatorcontrib><creatorcontrib>Shishido, Seiichiro</creatorcontrib><creatorcontrib>Aikawa, Atsushi</creatorcontrib><creatorcontrib>Hamada, Riku</creatorcontrib><creatorcontrib>Ishikura, Kenji</creatorcontrib><creatorcontrib>Hataya, Hiroshi</creatorcontrib><creatorcontrib>Hidaka, Yoshihiko</creatorcontrib><creatorcontrib>Noda, Shunsuke</creatorcontrib><creatorcontrib>Koike, Kenichi</creatorcontrib><creatorcontrib>Wakui, Keiko</creatorcontrib><creatorcontrib>Fukushima, Yoshimitsu</creatorcontrib><creatorcontrib>Matsumoto, Naomichi</creatorcontrib><creatorcontrib>Awazu, Midori</creatorcontrib><creatorcontrib>Miyake, Noriko</creatorcontrib><creatorcontrib>Kosho, Tomoki</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yoshimura-Furuhata, Megumi</au><au>Nishimura-Tadaki, Akira</au><au>Amano, Yoshiro</au><au>Ehara, Takashi</au><au>Hamasaki, Yuko</au><au>Muramatsu, Masaki</au><au>Shishido, Seiichiro</au><au>Aikawa, Atsushi</au><au>Hamada, Riku</au><au>Ishikura, Kenji</au><au>Hataya, Hiroshi</au><au>Hidaka, Yoshihiko</au><au>Noda, Shunsuke</au><au>Koike, Kenichi</au><au>Wakui, Keiko</au><au>Fukushima, Yoshimitsu</au><au>Matsumoto, Naomichi</au><au>Awazu, Midori</au><au>Miyake, Noriko</au><au>Kosho, Tomoki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Renal complications in 6p duplication syndrome: Microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2015-03</date><risdate>2015</risdate><volume>167A</volume><issue>3</issue><spage>592</spage><epage>601</epage><pages>592-601</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>6p duplication syndrome is a rare chromosomal disorder that frequently manifests renal complications, including proteinuria, hypoplastic kidney, and hydronephrosis. We report a girl with the syndrome, manifesting left hydronephrosis, proteinuria/hematuria, and focal segmental glomerular sclerosis (FSGS) resulting in chronic end‐stage renal failure, successfully treated with renal transplantation. Microarray comparative genomic hybridization showed the derivative chromosome 6 to have a 6.4‐Mb duplication at 6p25.3–p25.1 with 32 protein‐coding genes and a 220‐Kb deletion at 6p25.3 with two genes of no possible relation to the renal pathology. Review of the literature shows that variation of renal complications in the syndrome is compatible with congenital anomalies of the kidney and urinary tract (CAKUT). FSGS, observed in another patient with 6p duplication syndrome, could be a non‐coincidental complication. FOXC1, located within the 6.4‐Mb duplicated region at 6p25.3–p25.2, could be a candidate gene for CAKUT, but its single gene duplication effect would not be sufficient. FSGS would be a primary defect associated with duplicated gene(s) albeit no candidate could be proposed, or might occur in association with CAKUT. © 2015 Wiley Periodicals, Inc.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>25691411</pmid><doi>10.1002/ajmg.a.36942</doi><tpages>10</tpages></addata></record> |
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| subjects | 6p duplication syndrome Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Biopsy Child Chromosome Banding Chromosomes, Human, Pair 6 Comparative Genomic Hybridization congenital anomalies of kidney and urinary tract (CAKUT) Facies Female focal segmental glomerular sclerosis (FSGS) forkhead transcription factor 1 (FOXC1) Genome-Wide Association Study Glomerulosclerosis, Focal Segmental - diagnosis Glomerulosclerosis, Focal Segmental - genetics Humans Hydronephrosis - diagnosis Hydronephrosis - genetics Kidney - abnormalities Kidney - pathology microarray comparative genomic hybridization Proteinuria - diagnosis Proteinuria - genetics Syndrome Trisomy Ultrasonography Urinary Tract - abnormalities |
| title | Renal complications in 6p duplication syndrome: Microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS) |
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