SALL4 deletion and kidney and cardiac defects associated with VACTERL association
Congenital anomalies of the kidney and urinary tract (CAKUT) can be a part of the VACTERL association, which represents the non-random combination of the following congenital anomalies: vertebral anomalies, anal anomalies, cardiac anomalies, tracheal-esophageal anomalies, kidney anomalies, and limb...
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| Veröffentlicht in: | Pediatric nephrology (Berlin, West) West), 2024-08, Vol.39 (8), p.2347-2349 |
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| container_title | Pediatric nephrology (Berlin, West) |
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| creator | Watanabe, Daisuke Nakato, Daisuke Yamada, Mamiko Suzuki, Hisato Takenouchi, Toshiki Miya, Fuyuki Kosaki, Kenjiro |
| description | Congenital anomalies of the kidney and urinary tract (CAKUT) can be a part of the VACTERL association, which represents the non-random combination of the following congenital anomalies: vertebral anomalies, anal anomalies, cardiac anomalies, tracheal-esophageal anomalies, kidney anomalies, and limb anomalies. VACTERL association is generally considered to be a non-genetic condition. Exceptions include a patient with a heterozygous nonsense
SALL4
variant and anal stenosis, tetralogy of Fallot, sacro-vertebral fusion, and radial and thumb anomalies.
SALL4
encodes a transcription factor that plays a critical role in kidney morphogenesis. Here, we report a patient with VACTERL association and a heterozygous 128-kb deletion spanning
SALL4
who presented with renal hypoplasia, radial and atrio-septal defects, and patent ductus arteriosus. The present report of
SALL4
deletion, in addition to a previously reported patient with VACTERL association phenotype and
SALL4
nonsense mutation, further supports the notion that
SALL4
haploinsufficiency can lead to VACTERL association. |
| doi_str_mv | 10.1007/s00467-024-06306-8 |
| format | Article |
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SALL4
variant and anal stenosis, tetralogy of Fallot, sacro-vertebral fusion, and radial and thumb anomalies.
SALL4
encodes a transcription factor that plays a critical role in kidney morphogenesis. Here, we report a patient with VACTERL association and a heterozygous 128-kb deletion spanning
SALL4
who presented with renal hypoplasia, radial and atrio-septal defects, and patent ductus arteriosus. The present report of
SALL4
deletion, in addition to a previously reported patient with VACTERL association phenotype and
SALL4
nonsense mutation, further supports the notion that
SALL4
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SALL4
variant and anal stenosis, tetralogy of Fallot, sacro-vertebral fusion, and radial and thumb anomalies.
SALL4
encodes a transcription factor that plays a critical role in kidney morphogenesis. Here, we report a patient with VACTERL association and a heterozygous 128-kb deletion spanning
SALL4
who presented with renal hypoplasia, radial and atrio-septal defects, and patent ductus arteriosus. The present report of
SALL4
deletion, in addition to a previously reported patient with VACTERL association phenotype and
SALL4
nonsense mutation, further supports the notion that
SALL4
haploinsufficiency can lead to VACTERL association.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Anal Canal - abnormalities</subject><subject>Clinical Insights</subject><subject>Congenital defects</subject><subject>Congenital diseases</subject><subject>Defects</subject><subject>Esophagus</subject><subject>Esophagus - abnormalities</subject><subject>Female</subject><subject>Gene deletion</subject><subject>Genomes</subject><subject>Genotype & phenotype</subject><subject>Haploinsufficiency</subject><subject>Haploinsufficiency - genetics</subject><subject>Hearing loss</subject><subject>Heart</subject><subject>Heart Defects, Congenital - diagnosis</subject><subject>Heart Defects, Congenital - genetics</subject><subject>Humans</subject><subject>Hypoplasia</subject><subject>Infant, Newborn</subject><subject>Kidney - abnormalities</subject><subject>Kidneys</subject><subject>Limb Deformities, Congenital - diagnosis</subject><subject>Limb Deformities, Congenital - genetics</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Morphogenesis</subject><subject>Mutation</subject><subject>Nephrology</subject><subject>Nonsense mutation</subject><subject>Patients</subject><subject>Pediatrics</subject><subject>Phenotypes</subject><subject>R&D</subject><subject>Research & development</subject><subject>Spine - abnormalities</subject><subject>Stenosis</subject><subject>Tetralogy of Fallot</subject><subject>Trachea - abnormalities</subject><subject>Transcription factors</subject><subject>Transcription Factors - genetics</subject><subject>Urinary tract</subject><subject>Urogenital system</subject><subject>Urology</subject><subject>Vertebrae</subject><issn>0931-041X</issn><issn>1432-198X</issn><issn>1432-198X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kF1LwzAUhoMobn78AS-k4I031ZOkTZPLMeYHFESdsruQ5kM7u3Y2LbJ_b7fOCV54kxNynvPm8CB0huEKAyTXHiBiSQgkCoFRYCHfQ0McURJiwWf7aAiC4hAiPBugI-_nAMBjzg7RgHJKRMzFED0-j9I0CowtbJNXZaBKE3zkprSrzVWr2uRKd31ndeMD5X2lc9VYE3zlzXvwOhpPJ0_p7r2LOEEHThXenm7rMXq5mUzHd2H6cHs_HqWhpoQ1odWRjp0BwpQxzjhwWBht4_VhdBIbLgR1xHFqeOaSRFCTYMJiRmjGWWbpMbrsc5d19dla38hF7rUtClXaqvWSCEIFBsFwh178QedVW5fddpJCQoDxBK8p0lO6rryvrZPLOl-oeiUxyLVw2QuXnXC5ES55N3S-jW6zhTW7kR_DHUB7wHet8s3Wv3__E_sNpoCK3w</recordid><startdate>20240801</startdate><enddate>20240801</enddate><creator>Watanabe, Daisuke</creator><creator>Nakato, Daisuke</creator><creator>Yamada, Mamiko</creator><creator>Suzuki, Hisato</creator><creator>Takenouchi, Toshiki</creator><creator>Miya, Fuyuki</creator><creator>Kosaki, Kenjiro</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><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>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-6798-8151</orcidid></search><sort><creationdate>20240801</creationdate><title>SALL4 deletion and kidney and cardiac defects associated with VACTERL association</title><author>Watanabe, Daisuke ; Nakato, Daisuke ; Yamada, Mamiko ; Suzuki, Hisato ; Takenouchi, Toshiki ; Miya, Fuyuki ; Kosaki, Kenjiro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c326t-ec4c5fd026addfdf0f19dce59dcedc75d8993f2f83d8bf7793d71265623b86be3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Anal Canal - abnormalities</topic><topic>Clinical Insights</topic><topic>Congenital defects</topic><topic>Congenital diseases</topic><topic>Defects</topic><topic>Esophagus</topic><topic>Esophagus - abnormalities</topic><topic>Female</topic><topic>Gene deletion</topic><topic>Genomes</topic><topic>Genotype & phenotype</topic><topic>Haploinsufficiency</topic><topic>Haploinsufficiency - genetics</topic><topic>Hearing loss</topic><topic>Heart</topic><topic>Heart Defects, Congenital - diagnosis</topic><topic>Heart Defects, Congenital - genetics</topic><topic>Humans</topic><topic>Hypoplasia</topic><topic>Infant, Newborn</topic><topic>Kidney - abnormalities</topic><topic>Kidneys</topic><topic>Limb Deformities, Congenital - diagnosis</topic><topic>Limb Deformities, Congenital - genetics</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Morphogenesis</topic><topic>Mutation</topic><topic>Nephrology</topic><topic>Nonsense mutation</topic><topic>Patients</topic><topic>Pediatrics</topic><topic>Phenotypes</topic><topic>R&D</topic><topic>Research & development</topic><topic>Spine - abnormalities</topic><topic>Stenosis</topic><topic>Tetralogy of Fallot</topic><topic>Trachea - abnormalities</topic><topic>Transcription factors</topic><topic>Transcription Factors - genetics</topic><topic>Urinary tract</topic><topic>Urogenital system</topic><topic>Urology</topic><topic>Vertebrae</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Watanabe, Daisuke</creatorcontrib><creatorcontrib>Nakato, Daisuke</creatorcontrib><creatorcontrib>Yamada, Mamiko</creatorcontrib><creatorcontrib>Suzuki, Hisato</creatorcontrib><creatorcontrib>Takenouchi, Toshiki</creatorcontrib><creatorcontrib>Miya, Fuyuki</creatorcontrib><creatorcontrib>Kosaki, Kenjiro</creatorcontrib><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>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric nephrology (Berlin, West)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Watanabe, Daisuke</au><au>Nakato, Daisuke</au><au>Yamada, Mamiko</au><au>Suzuki, Hisato</au><au>Takenouchi, Toshiki</au><au>Miya, Fuyuki</au><au>Kosaki, Kenjiro</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>SALL4 deletion and kidney and cardiac defects associated with VACTERL association</atitle><jtitle>Pediatric nephrology (Berlin, West)</jtitle><stitle>Pediatr Nephrol</stitle><addtitle>Pediatr Nephrol</addtitle><date>2024-08-01</date><risdate>2024</risdate><volume>39</volume><issue>8</issue><spage>2347</spage><epage>2349</epage><pages>2347-2349</pages><issn>0931-041X</issn><issn>1432-198X</issn><eissn>1432-198X</eissn><abstract>Congenital anomalies of the kidney and urinary tract (CAKUT) can be a part of the VACTERL association, which represents the non-random combination of the following congenital anomalies: vertebral anomalies, anal anomalies, cardiac anomalies, tracheal-esophageal anomalies, kidney anomalies, and limb anomalies. VACTERL association is generally considered to be a non-genetic condition. Exceptions include a patient with a heterozygous nonsense
SALL4
variant and anal stenosis, tetralogy of Fallot, sacro-vertebral fusion, and radial and thumb anomalies.
SALL4
encodes a transcription factor that plays a critical role in kidney morphogenesis. Here, we report a patient with VACTERL association and a heterozygous 128-kb deletion spanning
SALL4
who presented with renal hypoplasia, radial and atrio-septal defects, and patent ductus arteriosus. The present report of
SALL4
deletion, in addition to a previously reported patient with VACTERL association phenotype and
SALL4
nonsense mutation, further supports the notion that
SALL4
haploinsufficiency can lead to VACTERL association.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>38329589</pmid><doi>10.1007/s00467-024-06306-8</doi><tpages>3</tpages><orcidid>https://orcid.org/0000-0002-6798-8151</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0931-041X |
| ispartof | Pediatric nephrology (Berlin, West), 2024-08, Vol.39 (8), p.2347-2349 |
| issn | 0931-041X 1432-198X 1432-198X |
| language | eng |
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| source | MEDLINE; SpringerNature Journals |
| subjects | Abnormalities, Multiple - genetics Anal Canal - abnormalities Clinical Insights Congenital defects Congenital diseases Defects Esophagus Esophagus - abnormalities Female Gene deletion Genomes Genotype & phenotype Haploinsufficiency Haploinsufficiency - genetics Hearing loss Heart Heart Defects, Congenital - diagnosis Heart Defects, Congenital - genetics Humans Hypoplasia Infant, Newborn Kidney - abnormalities Kidneys Limb Deformities, Congenital - diagnosis Limb Deformities, Congenital - genetics Male Medicine Medicine & Public Health Morphogenesis Mutation Nephrology Nonsense mutation Patients Pediatrics Phenotypes R&D Research & development Spine - abnormalities Stenosis Tetralogy of Fallot Trachea - abnormalities Transcription factors Transcription Factors - genetics Urinary tract Urogenital system Urology Vertebrae |
| title | SALL4 deletion and kidney and cardiac defects associated with VACTERL association |
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