Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome
Sotos syndrome is characterized by overgrowth, a typical facial appearance, and learning difficulties. It is caused by heterozygous mutations, including deletions, of NSD1 located at chromosome 5q35. Here we report two unrelated cases of Sotos syndrome associated with nephrocalcinosis. One patient a...
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| Veröffentlicht in: | Pediatric nephrology (Berlin, West) West), 2011-08, Vol.26 (8), p.1331-1334 |
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| container_title | Pediatric nephrology (Berlin, West) |
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| creator | Kenny, Joanna Lees, Melissa M. Drury, Susan Barnicoat, Angela van’t Hoff, William Palmer, Rodger Morrogh, Deborah Waters, Jonathan J. Lench, Nicholas J. Bockenhauer, Detlef |
| description | Sotos syndrome is characterized by overgrowth, a typical facial appearance, and learning difficulties. It is caused by heterozygous mutations, including deletions, of
NSD1
located at chromosome 5q35. Here we report two unrelated cases of Sotos syndrome associated with nephrocalcinosis. One patient also had idiopathic infantile hypercalcemia. Genetic investigations revealed heterozygous deletions at 5q35 in both patients, encompassing
NSD1
and
SLC34A1
(
NaPi2a
). Mutations in
SLC34A1
have previously been associated with hypercalciuria/nephrolithiasis. Our cases suggest a contiguous gene deletion syndrome including
NSD1
and
SLC34A1
and provide a potential genetic basis for idiopathic infantile hypercalcemia. |
| doi_str_mv | 10.1007/s00467-011-1884-z |
| format | Article |
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NSD1
located at chromosome 5q35. Here we report two unrelated cases of Sotos syndrome associated with nephrocalcinosis. One patient also had idiopathic infantile hypercalcemia. Genetic investigations revealed heterozygous deletions at 5q35 in both patients, encompassing
NSD1
and
SLC34A1
(
NaPi2a
). Mutations in
SLC34A1
have previously been associated with hypercalciuria/nephrolithiasis. Our cases suggest a contiguous gene deletion syndrome including
NSD1
and
SLC34A1
and provide a potential genetic basis for idiopathic infantile hypercalcemia.</description><identifier>ISSN: 0931-041X</identifier><identifier>EISSN: 1432-198X</identifier><identifier>DOI: 10.1007/s00467-011-1884-z</identifier><identifier>PMID: 21597970</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Age ; Brief Report ; Child development ; Chromosomes ; Chromosomes, Human, Pair 5 - genetics ; Comparative Genomic Hybridization ; Creatinine ; Female ; Gene Deletion ; Genes ; Histone Methyltransferases ; Histone-Lysine N-Methyltransferase ; Humans ; Hypercalcemia ; Hypercalcemia - genetics ; Hypercalcemia - physiopathology ; Infant ; Infant, Newborn ; Intracellular Signaling Peptides and Proteins - genetics ; Kidney stones ; Kidneys ; Medicine & Public Health ; Mutation ; Nephrocalcinosis - genetics ; Nephrocalcinosis - physiopathology ; Nephrology ; Nuclear Proteins - genetics ; Patients ; Pediatrics ; Rickets ; Scoliosis ; Sodium-Phosphate Cotransporter Proteins, Type IIa - genetics ; Sotos Syndrome - complications ; Sotos Syndrome - genetics ; Sotos Syndrome - physiopathology ; Ultrasonic imaging ; Urology</subject><ispartof>Pediatric nephrology (Berlin, West), 2011-08, Vol.26 (8), p.1331-1334</ispartof><rights>IPNA 2011</rights><rights>COPYRIGHT 2011 Springer</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c643t-f19558a74d4304f34871409889f67bb64ac065aba3a5f9df2ccdb346ff0201603</citedby><cites>FETCH-LOGICAL-c643t-f19558a74d4304f34871409889f67bb64ac065aba3a5f9df2ccdb346ff0201603</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00467-011-1884-z$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00467-011-1884-z$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,41467,42536,51298</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21597970$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kenny, Joanna</creatorcontrib><creatorcontrib>Lees, Melissa M.</creatorcontrib><creatorcontrib>Drury, Susan</creatorcontrib><creatorcontrib>Barnicoat, Angela</creatorcontrib><creatorcontrib>van’t Hoff, William</creatorcontrib><creatorcontrib>Palmer, Rodger</creatorcontrib><creatorcontrib>Morrogh, Deborah</creatorcontrib><creatorcontrib>Waters, Jonathan J.</creatorcontrib><creatorcontrib>Lench, Nicholas J.</creatorcontrib><creatorcontrib>Bockenhauer, Detlef</creatorcontrib><title>Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome</title><title>Pediatric nephrology (Berlin, West)</title><addtitle>Pediatr Nephrol</addtitle><addtitle>Pediatr Nephrol</addtitle><description>Sotos syndrome is characterized by overgrowth, a typical facial appearance, and learning difficulties. It is caused by heterozygous mutations, including deletions, of
NSD1
located at chromosome 5q35. Here we report two unrelated cases of Sotos syndrome associated with nephrocalcinosis. One patient also had idiopathic infantile hypercalcemia. Genetic investigations revealed heterozygous deletions at 5q35 in both patients, encompassing
NSD1
and
SLC34A1
(
NaPi2a
). Mutations in
SLC34A1
have previously been associated with hypercalciuria/nephrolithiasis. Our cases suggest a contiguous gene deletion syndrome including
NSD1
and
SLC34A1
and provide a potential genetic basis for idiopathic infantile hypercalcemia.</description><subject>Age</subject><subject>Brief Report</subject><subject>Child development</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 5 - genetics</subject><subject>Comparative Genomic Hybridization</subject><subject>Creatinine</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Genes</subject><subject>Histone Methyltransferases</subject><subject>Histone-Lysine N-Methyltransferase</subject><subject>Humans</subject><subject>Hypercalcemia</subject><subject>Hypercalcemia - genetics</subject><subject>Hypercalcemia - physiopathology</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Intracellular Signaling Peptides and Proteins - genetics</subject><subject>Kidney stones</subject><subject>Kidneys</subject><subject>Medicine & Public Health</subject><subject>Mutation</subject><subject>Nephrocalcinosis - genetics</subject><subject>Nephrocalcinosis - physiopathology</subject><subject>Nephrology</subject><subject>Nuclear Proteins - genetics</subject><subject>Patients</subject><subject>Pediatrics</subject><subject>Rickets</subject><subject>Scoliosis</subject><subject>Sodium-Phosphate Cotransporter Proteins, Type IIa - genetics</subject><subject>Sotos Syndrome - complications</subject><subject>Sotos Syndrome - genetics</subject><subject>Sotos Syndrome - physiopathology</subject><subject>Ultrasonic imaging</subject><subject>Urology</subject><issn>0931-041X</issn><issn>1432-198X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqNkk9LHDEYh4NU6mr7AbyUgUJPRt9MMpmMN5FWBcGDLdhTyGSS3ZGZZE1mDuunb5b1zwhbkRwCyfM-L8n7Q-iQwDEBKE8iAOMlBkIwEYLhxx00I4zmmFTi7hOaQUUJBkbu9tB-jPcAIArBP6O9nBRVWZUwQ39v_eBjFleuCb43R1nrrHJD25lssVqaoFWnTd-qo0y5JnNmuQh-fdY6H9t4mqlM-4TPRz_GbG6ceVF9QbtWddF8fdoP0J9fP3-fX-Lrm4ur87NrrDmjA7akKgqhStYwCsxSJkrCoBKisrysa86UBl6oWlFV2KqxudZNTRm3FnIgHOgB-r7xLoN_GE0c5L0fg0stJYHkLoWA_JWaq87I9Eg_BKX7Nmp5xkHkhHNWvEtRSphILpoovIVaPz6ozjtj0--9tX6En_qPt_BpNWkSemuDDxVMO_yYFCyM6oZF9N04tN7Ft-Z3wamRbEAdfIzBWLkMba_CKg1BrsMqN2GVKaxyHVb5mGq-PU1urHvTvFQ8pzMB-QaI6crNTZiO9n_Wf-MH774</recordid><startdate>20110801</startdate><enddate>20110801</enddate><creator>Kenny, Joanna</creator><creator>Lees, Melissa M.</creator><creator>Drury, Susan</creator><creator>Barnicoat, Angela</creator><creator>van’t Hoff, William</creator><creator>Palmer, Rodger</creator><creator>Morrogh, Deborah</creator><creator>Waters, Jonathan J.</creator><creator>Lench, Nicholas J.</creator><creator>Bockenhauer, Detlef</creator><general>Springer Berlin Heidelberg</general><general>Springer</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>3V.</scope><scope>7QP</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope></search><sort><creationdate>20110801</creationdate><title>Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome</title><author>Kenny, Joanna ; Lees, Melissa M. ; Drury, Susan ; Barnicoat, Angela ; van’t Hoff, William ; Palmer, Rodger ; Morrogh, Deborah ; Waters, Jonathan J. ; Lench, Nicholas J. ; Bockenhauer, Detlef</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c643t-f19558a74d4304f34871409889f67bb64ac065aba3a5f9df2ccdb346ff0201603</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Age</topic><topic>Brief Report</topic><topic>Child development</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 5 - genetics</topic><topic>Comparative Genomic Hybridization</topic><topic>Creatinine</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Genes</topic><topic>Histone Methyltransferases</topic><topic>Histone-Lysine N-Methyltransferase</topic><topic>Humans</topic><topic>Hypercalcemia</topic><topic>Hypercalcemia - genetics</topic><topic>Hypercalcemia - physiopathology</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Intracellular Signaling Peptides and Proteins - genetics</topic><topic>Kidney stones</topic><topic>Kidneys</topic><topic>Medicine & Public Health</topic><topic>Mutation</topic><topic>Nephrocalcinosis - genetics</topic><topic>Nephrocalcinosis - physiopathology</topic><topic>Nephrology</topic><topic>Nuclear Proteins - genetics</topic><topic>Patients</topic><topic>Pediatrics</topic><topic>Rickets</topic><topic>Scoliosis</topic><topic>Sodium-Phosphate Cotransporter Proteins, Type IIa - genetics</topic><topic>Sotos Syndrome - complications</topic><topic>Sotos Syndrome - 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It is caused by heterozygous mutations, including deletions, of
NSD1
located at chromosome 5q35. Here we report two unrelated cases of Sotos syndrome associated with nephrocalcinosis. One patient also had idiopathic infantile hypercalcemia. Genetic investigations revealed heterozygous deletions at 5q35 in both patients, encompassing
NSD1
and
SLC34A1
(
NaPi2a
). Mutations in
SLC34A1
have previously been associated with hypercalciuria/nephrolithiasis. Our cases suggest a contiguous gene deletion syndrome including
NSD1
and
SLC34A1
and provide a potential genetic basis for idiopathic infantile hypercalcemia.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>21597970</pmid><doi>10.1007/s00467-011-1884-z</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0931-041X |
| ispartof | Pediatric nephrology (Berlin, West), 2011-08, Vol.26 (8), p.1331-1334 |
| issn | 0931-041X 1432-198X |
| language | eng |
| recordid | cdi_proquest_journals_1095578802 |
| source | MEDLINE; Springer Nature - Complete Springer Journals |
| subjects | Age Brief Report Child development Chromosomes Chromosomes, Human, Pair 5 - genetics Comparative Genomic Hybridization Creatinine Female Gene Deletion Genes Histone Methyltransferases Histone-Lysine N-Methyltransferase Humans Hypercalcemia Hypercalcemia - genetics Hypercalcemia - physiopathology Infant Infant, Newborn Intracellular Signaling Peptides and Proteins - genetics Kidney stones Kidneys Medicine & Public Health Mutation Nephrocalcinosis - genetics Nephrocalcinosis - physiopathology Nephrology Nuclear Proteins - genetics Patients Pediatrics Rickets Scoliosis Sodium-Phosphate Cotransporter Proteins, Type IIa - genetics Sotos Syndrome - complications Sotos Syndrome - genetics Sotos Syndrome - physiopathology Ultrasonic imaging Urology |
| title | Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome |
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