Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

Background: Most cases of Sotos syndrome are caused by intragenic NSD1 mutations or 5q35 microdeletions. It is uncertain whether allelic or genetic heterogeneity underlies the residual cases and it has been proposed that other mechanisms, such as 11p15 defects, might be responsible for Sotos cases w...

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Bibliographic Details
Published in:	Journal of medical genetics Vol. 42; no. 9; p. e56
Main Authors:	Douglas, J, Tatton-Brown, K, Coleman, K, Guerrero, S, Berg, J, Cole, T R P, FitzPatrick, D, Gillerot, Y, Hughes, H E, Pilz, D, Raymond, F L, Temple, I K, Irrthum, A, Schouten, J P, Rahman, N
Format:	Journal Article
Language:	English
Published:	England BMJ Publishing Group Ltd 01-09-2005 BMJ Publishing Group LTD BMJ Group
Subjects:	Base Sequence Breakpoints Case-Control Studies Deoxyribonucleic acid DNA Electronic Letter Electronic letters Exons Gene Deletion Genes Growth Disorders - genetics HBOS HBOS, hereditary breast-ovarian cancer syndrome hereditary breast-ovarian cancer syndrome hereditary non-polyposis colorectal cancer Histone Methyltransferases Histone-Lysine N-Methyltransferase HNPCC HNPCC, hereditary non-polyposis colorectal cancer Humans Intracellular Signaling Peptides and Proteins - genetics Learning Disabilities - genetics Methods MLPA MLPA, multiplex ligation dependent probe amplification Molecular Sequence Data multiplex ligation dependent probe amplification Mutation NAHR NAHR, non-allelic homologous recombination NHEJ NHEJ, non-homologous end joining non-allelic homologous recombination Non-homologous end joining NSD1 Nuclear Proteins - genetics Nucleic Acid Amplification Techniques - methods Polymerase chain reaction Sotos syndrome Syndrome United States > US California
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