Article
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
American journal of human genetics - 1 May 2007
Amiel Jeanne, Rio Marlene, de Pontual Loic, Redon Richard, Malan Valerie, Boddaert Nathalie, Plouin Perrine, Carter Nigel P, Lyonnet Stanislas, Munnich Arnold, Colleaux Laurence
Abstract excerpt
Pitt-Hopkins syndrome (PHS) is a rare syndromic encephalopathy characterized by daily bouts of hyperventilation and a facial gestalt. We report a 1.8-Mb de novo microdeletion on chromosome 18q21.1, identified by array-comparative genomic hybridization in one patient with PHS. We subsequently identified two de novo heterozygous missense mutations of a conserved amino acid in the basic region of the TCF4 gene in...
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