A Syndrome of Mental Retardation, Wide Mouth and Intermittent Overbreathing

Pitt, David; Hopkins, I. J.

doi:10.1111/jpc.1978.14.3.182

Cited by 91 publications

(109 citation statements)

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“…13,14 Homozygous TCF4 deletion in mice lead to early lethality of unknown reason, 15 suggesting an essential role for E2-2 factors in development. In addition, genetic studies have recently demonstrated that loss of one copy of TCF4 in human causes the Pitt-Hopkins syndrome, [16][17][18] a neurodevelopment disease characterized by mental retardation, seizures and hyperventilation, 19 supporting an essential role for E2-2 factors in human nervous system development. In fact, it has been observed that E2-2 forms functional heterodimers with the bHLH factors HASH-1 and MATH1, involved in development of specific parts of the central and peripheral nerves.…”

Section: 12mentioning

confidence: 99%

An emerging role for class I bHLH E2-2 proteins in EMT regulation and tumor progression

Cano¹,

Portillo²

2010

Cell Adhesion & Migration

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Section: 12mentioning

confidence: 99%

An emerging role for class I bHLH E2-2 proteins in EMT regulation and tumor progression

Cano¹,

Portillo²

2010

Cell Adhesion & Migration

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“…TCF4 is critical for normal brain development (Flora et al, 2007). Human haploinsufficiency of TCF4 may result in severe cognitive deficiency (ie, mental retardation) in patients with Pitt-Hopkins syndrome (Pitt and Hopkins, 1978) or Angelman syndrome (Takano et al, 2010). However, the role of the TCF4 gene in cognitive deficiency in SCZ patients has seldom been studied (for exceptions, see Lennertz et al (2011); Quednow et al (2011)).…”

Section: Introductionmentioning

confidence: 99%

Associations between TCF4 Gene Polymorphism and Cognitive Functions in Schizophrenia Patients and Healthy Controls

Zhu

Liu

et al. 2012

Neuropsychopharmacol

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The SNP rs2958182 was reported to be significantly associated with schizophrenia (SCZ) in Han Chinese. This study examined this SNP's associations with cognitive functions in 580 SCZ patients and 498 controls. Cognitive functions were assessed using the Wechsler Adult Intelligence Scale-Revised (WAIS-RC), the Attention Network Task (ANT), the Stroop task, the dot pattern expectancy (DPX), task and the N-back working memory task. Results showed significant or marginally significant interaction effects between genotype and diagnosis status on IQ (P ¼ 0.011) and attention-related tasks (ie, the forward digit span of WAIS-RC, P ¼ 0.005; the ANT conflict effect; P ¼ 0.020, and its ratios over mean reaction time (RT), P ¼ 0.036; the Stroop conflict effect, P ¼ 0.032, and its ratios over mean RT, P ¼ 0.062; and the DPX task's error rate under the BX condition, Po0.001, and the error rate of BX minus the error rate of AY (BX À AY), P ¼ 0.002). There were no such interaction effects on the measures of working memory (all P-values 40.05). Further analysis of the significant genotype-by-diagnosis interactions showed that the risk (T) allele was associated with better performance on cognitive tasks in patients but with worse performance in controls. These results seem to indicate that the association between this SNP and selected cognitive functions may be of an inverted U-shaped pattern. Future research is needed to replicate these results and to explore the biochemical mechanisms behind this association.

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“…Second, several studies showed that TCF4 haploinsufficiency contributes to severe neurodevelopmental disorders such as the Pitt-Hopkins syndrome [1,4,9,33,40]. This autosomal dominant encephalopathy is characterized by severe mental retardation, microcephaly, disrupted motor development, and hyperventilation, as described above [25]. Third, animal studies showed that TCF4 knock-out mice die within 24 hours after birth [13].…”

Section: Tcf4 and Cognitive Endophenotypes Of Schizophreniamentioning

confidence: 87%

“…In 2007, disruption of the TCF4 gene was shown to cause Pitt-Hopkins syndrome [1,4,40]. Pitt-Hopkins syndrome was described in 1978 as a syndrome of mental retardation, microcephaly, facial dysmorphisms, and intermittent hyperventilation [25]. Seizures also frequently occur in the syndrome [33].…”

Section: Introductionmentioning

confidence: 99%

Impact of TCF4 on the genetics of schizophrenia

Lennertz

Quednow

Benninghoff

et al. 2011

Eur Arch Psychiatry Clin Neurosci

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Mutations of the transcription factor 4 (TCF4) gene cause mental retardation with or without associated facial dysmorphisms and intermittent hyperventilation. Subsequently, a polymorphism of TCF4 was shown in a genome-wide association study to slightly increase the risk of schizophrenia. We have further analysed the impact of this TCF4 variant rs9960767 on early information processing and cognitive functions in schizophrenia patients. We have shown in a sample of 401 schizophrenia patients that TCF4 influences verbal memory in the Rey Auditory Verbal Learning Test. Contrary to expectations, carriers of the schizophrenia-associated allele showed better recognition, thus indicating that while TCF4 influences verbal memory, the TCF4-mediated schizophrenia risk is not determined by the influence of TCF4 on verbal memory. TCF4 does not impact on various other cognitive functions belonging to the domains of attention and executive functions. Moreover, in a pharmacogenetic approach, TCF4 does not modulate the improvement of positive or negative schizophrenia symptoms during treatment with antipsychotics. Finally, we have assessed a key electrophysiological endophenotype of schizophrenia, sensorimotor gating. As measured by prepulse inhibition, the schizophrenia risk allele C of TCF4 rs9960767 reduces sensorimotor gating. This indicates that TCF4 influences key mechanisms of information processing, which may contribute to the pathogenesis of schizophrenia.

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A Syndrome of Mental Retardation, Wide Mouth and Intermittent Overbreathing

Cited by 91 publications

References 1 publication

An emerging role for class I bHLH E2-2 proteins in EMT regulation and tumor progression

An emerging role for class I bHLH E2-2 proteins in EMT regulation and tumor progression

Associations between TCF4 Gene Polymorphism and Cognitive Functions in Schizophrenia Patients and Healthy Controls

Impact of TCF4 on the genetics of schizophrenia

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