Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

doi:10.1093/hmg/ddm099

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Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

Human molecular genetics - 15 Jun 2007

Brockschmidt Antje, Todt Unda, Ryu Soojin, Hoischen Alexander, Landwehr Christina, Birnbaum Stefanie, Frenck Wilhelm, Radlwimmer Bernhard, Lichter Peter, Engels Hartmut, Driever Wolfgang, Kubisch Christian, Weber Ruthild G

Abstract excerpt

Pitt-Hopkins syndrome (PHS) is a rare syndromic mental disorder, which is mainly characterized by severe motor and mental retardation including absent language development, a characteristic facial gestalt and episodes of hyperventilation. We report on a female patient with PHS showing severe mental retardation with absent speech, pronounced muscular hypotonia, ataxia, distinctive facial features, such as a coarse...

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PMID: 17478476
DOI: 10.1093/hmg/ddm099

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TCF4

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Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.PMID 17478476Read ↗

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsSemantic proximity Read ↗

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).Semantic proximity Read ↗

A case of Pitt-Hopkins syndrome with absence of hyperventilation.Semantic proximity Read ↗

TCF4 deletions in Pitt-Hopkins Syndrome.Semantic proximity Read ↗

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.Semantic proximity Read ↗

Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.Semantic proximity Read ↗

Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient.Semantic proximity Read ↗

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.Semantic proximity Read ↗

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.Semantic proximity Read ↗

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.Semantic proximity Read ↗

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