Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations (Q28265767)

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Kathleen Leppig

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Blake C Ballif

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Heidi Thiese

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Christine Erdie-Lalena

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Erwati Bawle

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Sujatha Sastry

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J Edward Spence

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Anne Bandholz

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Urvashi Surti

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Jonathan Zonana

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Kory Keller

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Bassem A Bejjani

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Beth S Torchia

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Lisa G Shaffer

Pitt-Hopkins syndrome in two patients and further definition of the phenotype

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language of work or name

English

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publication date

November 2009

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published in

Genetics in Medicine

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volume

11

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issue

11

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page(s)

797-805

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cites work

1 reference

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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

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Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

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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

21 January 2018

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Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

21 January 2018

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

21 January 2018

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TCF4 deletions in Pitt-Hopkins Syndrome.

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Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

21 January 2018

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Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

21 January 2018

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The basic helix-loop-helix transcription factor E2-2 is involved in T lymphocyte development.

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Helix-loop-helix proteins: regulators of transcription in eucaryotic organisms

21 January 2018

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

21 January 2018

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18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

21 January 2018

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Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]

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Prevalence estimation of Williams syndrome

21 January 2018

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21 January 2018

Smith-Magenis syndrome

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The role of class I HLH genes in neural development--have they been overlooked?

21 January 2018

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B-lymphocyte development is regulated by the combined dosage of three basic helix-loop-helix genes, E2A, E2-2, and HEB.

21 January 2018

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The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors

21 January 2018

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Specification of the central noradrenergic phenotype by the homeobox gene Phox2b.

21 January 2018

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Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

21 January 2018

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Mammalian achaete-scute homolog 1 is required for the early development of olfactory and autonomic neurons

21 January 2018

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HASH-1 and E2-2 are expressed in human neuroblastoma cells and form a functional complex

21 January 2018

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High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

21 January 2018

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Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis

21 January 2018

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The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

21 January 2018

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A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

21 January 2018

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Functional replacement of the mouse E2A gene with a human HEB cDNA.

21 January 2018

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A BMAL1 mutant with arginine 91 substituted with alanine acts as a dominant negative inhibitor

21 January 2018

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Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation

21 January 2018

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Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

21 January 2018

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Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire

21 January 2018

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Functional analysis of a dominant negative mutation of interferon regulatory factor 5

21 January 2018

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The conserved glutamine-rich region of chick csal1 and csal3 mediates protein interactions with other spalt family members. Implications for Townes-Brocks syndrome

21 January 2018

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Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

21 January 2018

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Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

21 January 2018

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