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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... Full description

Journal Title: Pediatric nephrology (Berlin West), 2011-08-01, Vol.26 (8), p.1331-1334
Main Author: Kenny, Joanna
Other Authors: Lees, Melissa M , Drury, Susan , Barnicoat, Angela , van’t Hoff, William , Palmer, Rodger , Morrogh, Deborah , Waters, Jonathan J , Lench, Nicholas J , Bockenhauer, Detlef
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: Berlin/Heidelberg: Springer Berlin Heidelberg
ID: ISSN: 0931-041X
Link: https://www.ncbi.nlm.nih.gov/pubmed/21597970
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recordid: cdi_crossref_primary_10_1007_s00467_011_1884_z
title: Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome
format: Article
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
subjects:
  • Brief Report
  • Chromosomes, Human, Pair 5 - genetics
  • Comparative Genomic Hybridization
  • Female
  • Gene Deletion
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Hypercalcemia - genetics
  • Hypercalcemia - physiopathology
  • Idiopathic infantile hypercalcemia
  • Infant
  • Infant, Newborn
  • Intracellular Signaling Peptides and Proteins - genetics
  • Medicine & Public Health
  • Mutation
  • Nephrocalcinosis
  • Nephrocalcinosis - genetics
  • Nephrocalcinosis - physiopathology
  • Nephrology
  • Nuclear Proteins - genetics
  • Pediatrics
  • SLC34A1
  • Sodium-Phosphate Cotransporter Proteins, Type IIa - genetics
  • Sotos syndrome
  • Sotos Syndrome - complications
  • Sotos Syndrome - genetics
  • Sotos Syndrome - physiopathology
  • Urology
ispartof: Pediatric nephrology (Berlin, West), 2011-08-01, Vol.26 (8), p.1331-1334
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.
language: eng
source:
identifier: ISSN: 0931-041X
fulltext: no_fulltext
issn:
  • 0931-041X
  • 1432-198X
url: Link


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titleSotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome
creatorKenny, Joanna ; Lees, Melissa M ; Drury, Susan ; Barnicoat, Angela ; van’t Hoff, William ; Palmer, Rodger ; Morrogh, Deborah ; Waters, Jonathan J ; Lench, Nicholas J ; Bockenhauer, Detlef
creatorcontribKenny, Joanna ; Lees, Melissa M ; Drury, Susan ; Barnicoat, Angela ; van’t Hoff, William ; Palmer, Rodger ; Morrogh, Deborah ; Waters, Jonathan J ; Lench, Nicholas J ; Bockenhauer, Detlef
descriptionSotos 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.
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languageeng
publisherBerlin/Heidelberg: Springer Berlin Heidelberg
subjectBrief Report ; Chromosomes, Human, Pair 5 - genetics ; Comparative Genomic Hybridization ; Female ; Gene Deletion ; Histone Methyltransferases ; Histone-Lysine N-Methyltransferase ; Humans ; Hypercalcemia - genetics ; Hypercalcemia - physiopathology ; Idiopathic infantile hypercalcemia ; Infant ; Infant, Newborn ; Intracellular Signaling Peptides and Proteins - genetics ; Medicine & Public Health ; Mutation ; Nephrocalcinosis ; Nephrocalcinosis - genetics ; Nephrocalcinosis - physiopathology ; Nephrology ; Nuclear Proteins - genetics ; Pediatrics ; SLC34A1 ; Sodium-Phosphate Cotransporter Proteins, Type IIa - genetics ; Sotos syndrome ; Sotos Syndrome - complications ; Sotos Syndrome - genetics ; Sotos Syndrome - physiopathology ; Urology
ispartofPediatric nephrology (Berlin, West), 2011-08-01, Vol.26 (8), p.1331-1334
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descriptionSotos 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.
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2Comparative Genomic Hybridization
3Female
4Gene Deletion
5Histone Methyltransferases
6Histone-Lysine N-Methyltransferase
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8Hypercalcemia - genetics
9Hypercalcemia - physiopathology
10Idiopathic infantile hypercalcemia
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12Infant, Newborn
13Intracellular Signaling Peptides and Proteins - genetics
14Medicine & Public Health
15Mutation
16Nephrocalcinosis
17Nephrocalcinosis - genetics
18Nephrocalcinosis - physiopathology
19Nephrology
20Nuclear Proteins - genetics
21Pediatrics
22SLC34A1
23Sodium-Phosphate Cotransporter Proteins, Type IIa - genetics
24Sotos syndrome
25Sotos Syndrome - complications
26Sotos Syndrome - genetics
27Sotos Syndrome - physiopathology
28Urology
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authorKenny, Joanna ; Lees, Melissa M ; Drury, Susan ; Barnicoat, Angela ; van’t Hoff, William ; Palmer, Rodger ; Morrogh, Deborah ; Waters, Jonathan J ; Lench, Nicholas J ; Bockenhauer, Detlef
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date2011-08-01
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abstractSotos 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.
copBerlin/Heidelberg
pubSpringer Berlin Heidelberg
pmid21597970
doi10.1007/s00467-011-1884-z