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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of the reported cases with Kabuki syndrome, but parent-to-child... Full description

Journal Title: American journal of medical genetics. Part A July 2011, Vol.155A(7), pp.1511-1516
Main Author: Hannibal, Mark C
Other Authors: Buckingham, Kati J , Ng, Sarah B , Ming, Jeffrey E , Beck, Anita E , Mcmillin, Margaret J , Gildersleeve, Heidi I , Bigham, Abigail W , Tabor, Holly K , Mefford, Heather C , Cook, Joseph , Yoshiura, Koh-Ichiro , Matsumoto, Tadashi , Matsumoto, Naomichi , Miyake, Noriko , Tonoki, Hidefumi , Naritomi, Kenji , Kaname, Tadashi , Nagai, Toshiro , Ohashi, Hirofumi , Kurosawa, Kenji , Hou, Jia-Woei , Ohta, Tohru , Liang, Deshung , Sudo, Akira , Morris, Colleen A , Banka, Siddharth , Black, Graeme C , Clayton-Smith, Jill , Nickerson, Deborah A , Zackai, Elaine H , Shaikh, Tamim H , Donnai, Dian , Niikawa, Norio , Shendure, Jay , Bamshad, Michael J
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: E-ISSN: 1552-4833 ; DOI: 10.1002/ajmg.a.34074
Link: http://search.proquest.com/docview/873705687/?pq-origsite=primo
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title: Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
format: Article
creator:
  • Hannibal, Mark C
  • Buckingham, Kati J
  • Ng, Sarah B
  • Ming, Jeffrey E
  • Beck, Anita E
  • Mcmillin, Margaret J
  • Gildersleeve, Heidi I
  • Bigham, Abigail W
  • Tabor, Holly K
  • Mefford, Heather C
  • Cook, Joseph
  • Yoshiura, Koh-Ichiro
  • Matsumoto, Tadashi
  • Matsumoto, Naomichi
  • Miyake, Noriko
  • Tonoki, Hidefumi
  • Naritomi, Kenji
  • Kaname, Tadashi
  • Nagai, Toshiro
  • Ohashi, Hirofumi
  • Kurosawa, Kenji
  • Hou, Jia-Woei
  • Ohta, Tohru
  • Liang, Deshung
  • Sudo, Akira
  • Morris, Colleen A
  • Banka, Siddharth
  • Black, Graeme C
  • Clayton-Smith, Jill
  • Nickerson, Deborah A
  • Zackai, Elaine H
  • Shaikh, Tamim H
  • Donnai, Dian
  • Niikawa, Norio
  • Shendure, Jay
  • Bamshad, Michael J
subjects:
  • Abnormalities, Multiple–Diagnosis
  • Alleles–Genetics
  • DNA-Binding Proteins–Genetics
  • Face–Abnormalities
  • Gene Order–Diagnosis
  • Genetic Testing–Genetics
  • Genotype–Genetics
  • Hematologic Diseases–Genetics
  • Humans–Diagnosis
  • Mutation–Genetics
  • Neoplasm Proteins–Genetics
  • Phenotype–Genetics
  • Prognosis–Genetics
  • Vestibular Diseases–Genetics
  • DNA-Binding Proteins
  • Kmt2d Protein, Human
  • Neoplasm Proteins
ispartof: American journal of medical genetics. Part A, July 2011, Vol.155A(7), pp.1511-1516
description: Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of the reported cases with Kabuki syndrome, but parent-to-child transmission in more than a half-dozen instances indicates that it is an autosomal dominant disorder. We recently reported that Kabuki syndrome is caused by mutations in MLL2, a gene that encodes a Trithorax-group histone methyltransferase, a protein important in the epigenetic control of active chromatin states. Here, we report on the screening of 110 families with Kabuki syndrome. MLL2 mutations were found in 81/110 (74%) of families. In simplex cases for which DNA was available from both parents, 25 mutations were confirmed to be de novo, while a transmitted MLL2 mutation was found in two of three familial cases. The majority of variants found to cause Kabuki syndrome were novel nonsense or frameshift mutations that are predicted to result in haploinsufficiency. The clinical characteristics of MLL2 mutation-positive cases did not differ significantly from MLL2 mutation-negative cases with the exception that renal anomalies were more common in MLL2 mutation-positive cases. These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome.
language: eng
source:
identifier: E-ISSN: 1552-4833 ; DOI: 10.1002/ajmg.a.34074
fulltext: fulltext
issn:
  • 15524833
  • 1552-4833
url: Link


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titleSpectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
creatorHannibal, Mark C ; Buckingham, Kati J ; Ng, Sarah B ; Ming, Jeffrey E ; Beck, Anita E ; Mcmillin, Margaret J ; Gildersleeve, Heidi I ; Bigham, Abigail W ; Tabor, Holly K ; Mefford, Heather C ; Cook, Joseph ; Yoshiura, Koh-Ichiro ; Matsumoto, Tadashi ; Matsumoto, Naomichi ; Miyake, Noriko ; Tonoki, Hidefumi ; Naritomi, Kenji ; Kaname, Tadashi ; Nagai, Toshiro ; Ohashi, Hirofumi ; Kurosawa, Kenji ; Hou, Jia-Woei ; Ohta, Tohru ; Liang, Deshung ; Sudo, Akira ; Morris, Colleen A ; Banka, Siddharth ; Black, Graeme C ; Clayton-Smith, Jill ; Nickerson, Deborah A ; Zackai, Elaine H ; Shaikh, Tamim H ; Donnai, Dian ; Niikawa, Norio ; Shendure, Jay ; Bamshad, Michael J
contributorHannibal, Mark C (correspondence author) ; Hannibal, Mark C (record owner)
ispartofAmerican journal of medical genetics. Part A, July 2011, Vol.155A(7), pp.1511-1516
identifierE-ISSN: 1552-4833 ; DOI: 10.1002/ajmg.a.34074
subjectAbnormalities, Multiple–Diagnosis ; Alleles–Genetics ; DNA-Binding Proteins–Genetics ; Face–Abnormalities ; Gene Order–Diagnosis ; Genetic Testing–Genetics ; Genotype–Genetics ; Hematologic Diseases–Genetics ; Humans–Diagnosis ; Mutation–Genetics ; Neoplasm Proteins–Genetics ; Phenotype–Genetics ; Prognosis–Genetics ; Vestibular Diseases–Genetics ; DNA-Binding Proteins ; Kmt2d Protein, Human ; Neoplasm Proteins
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descriptionKabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of the reported cases with Kabuki syndrome, but parent-to-child transmission in more than a half-dozen instances indicates that it is an autosomal dominant disorder. We recently reported that Kabuki syndrome is caused by mutations in MLL2, a gene that encodes a Trithorax-group histone methyltransferase, a protein important in the epigenetic control of active chromatin states. Here, we report on the screening of 110 families with Kabuki syndrome. MLL2 mutations were found in 81/110 (74%) of families. In simplex cases for which DNA was available from both parents, 25 mutations were confirmed to be de novo, while a transmitted MLL2 mutation was found in two of three familial cases. The majority of variants found to cause Kabuki syndrome were novel nonsense or frameshift mutations that are predicted to result in haploinsufficiency. The clinical characteristics of MLL2 mutation-positive cases did not differ significantly from MLL2 mutation-negative cases with the exception that renal anomalies were more common in MLL2 mutation-positive cases. These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome.
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titleSpectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
authorHannibal, Mark C ; Buckingham, Kati J ; Ng, Sarah B ; Ming, Jeffrey E ; Beck, Anita E ; Mcmillin, Margaret J ; Gildersleeve, Heidi I ; Bigham, Abigail W ; Tabor, Holly K ; Mefford, Heather C ; Cook, Joseph ; Yoshiura, Koh-Ichiro ; Matsumoto, Tadashi ; Matsumoto, Naomichi ; Miyake, Noriko ; Tonoki, Hidefumi...
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atitleSpectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
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