Ontology highlight
ABSTRACT:
SUBMITTER: Amiel J
PROVIDER: S-EPMC1852736 | biostudies-literature | 2007 May
REPOSITORIES: biostudies-literature
Amiel Jeanne J Rio Marlene M de Pontual Loic L Redon Richard R Malan Valerie V Boddaert Nathalie N Plouin Perrine P Carter Nigel P NP Lyonnet Stanislas S Munnich Arnold A Colleaux Laurence L
American journal of human genetics 20070323 5
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 three additional subjects with PHS. These findings demonstrate that TCF4 anomalies are ...[more]