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Article

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

Journal of child neurology - 1 Mar 2018

Goodspeed Kimberly, Newsom Cassandra, Morris Mary Ann, Powell Craig, Evans Patricia, Golla Sailaja

Abstract excerpt

Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. PTHS is characterized by syndromic facies, psychomotor delay, and intellectual disability. Other associated features include early-onset myopia, seizures, constipation, and hyperventilation-apneic spells. Many also meet criteria for autism spectrum disorder....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29318938
DOI: 10.1177/0883073817750490
PMCID: PMC5922265

Genes

TCF4

Provenance

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Related research

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Research trail→

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Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.PMID 29318938Read ↗

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

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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 ↗

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

263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.Semantic proximity Read ↗

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

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.Semantic proximity Read ↗

A novel variant in the 3' UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report.Semantic proximity Read ↗

Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations.Semantic proximity Read ↗

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.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 ↗

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