263.4 kb deletion within the TCF4 gene consistent with Pitt–Hopkins syndrome, inherited from a mosaic parent with normal phenotype

Kousoulidou, Ludmila; Tanteles, George A.; Moutafi, Maria; Sismani, Carolina; Patsalis, Philippos C.; Anastasiadou, Violetta

doi:10.1016/j.ejmg.2013.03.005

Cited by 21 publications

(21 citation statements)

References 14 publications

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“…Recurrence risk for sibs of affected individuals is therefore generally low. Germ line or low‐grade parental mosaicism has been reported in four instances, representing 2% to 3% of published cases . Additionally, our joint experience in 273 individuals with molecularly confirmed PTHS indicates five recurrences in siblings without a detectable (mosaic) TCF4 variant in the parents.…”

Section: Molecular Diagnostic Criteriamentioning

confidence: 72%

“…Germ line or low-grade parental mosaicism has been reported in four instances, representing 2% to 3% of published cases. 15,22,42,43 Additionally, our joint experience in 273 individuals with molecularly confirmed PTHS indicates five recurrences in siblings without a detectable (mosaic) TCF4 variant in the parents. Therefore, we confirm an empiric recurrence risk of up to 2% (R4).…”

Section: Pattern Of Inheritancementioning

confidence: 90%

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Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

et al. 2019

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Pitt‐Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. It is caused by variants in the transcription factor TCF4. Heterogeneity in the clinical and molecular diagnostic criteria and care practices has prompted a group of international experts to establish guidelines for diagnostics and care. For issues, for which there was limited information available in international literature, we collaborated with national support groups and the participants of a syndrome specific international conference to obtain further information. Here, we discuss the resultant consensus, including the clinical definition of PTHS and a molecular diagnostic pathway. Recommendations for managing particular health problems such as dysregulated respiration are provided. We emphasize the need for integration of care for physical and behavioral issues. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimization of diagnostics and care.

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Section: Molecular Diagnostic Criteriamentioning

confidence: 72%

Section: Pattern Of Inheritancementioning

confidence: 90%

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

et al. 2019

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“…Microarrays revealed a de novo 0, 25 Mb microdeletion at chromosome 18q21.1 encompassing four exons of TCF4 and the MIR4529 gene (see online supplementary figure S1.1). Loss of function mutations and microdeletions affecting TCF4 have been described in patients with PTHS 19 20 34. The natural history of RTT and PTHS overlaps significantly, the latter being usually considered in the differential diagnosis of RTT.…”

Section: Resultsmentioning

confidence: 99%

Identification of novel genetic causes of Rett syndrome-likephenotypes

et al. 2016

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“…These findings stress the point that not only is the size, location, and direction of the CNV important, but so too is the number of copies. A range of other inheritance scenarios are reviewed by Hehir-Kwa et al (2013), including X-linked CNVs (wide vary widely across individuals), and mosaic imbalances (Kousoulidou et al, 2013; may vary across an individual’s cell types; Biesecker and Spinner, 2013; Forsberg et al, 2013). …”

Section: Integrating Cnvs With Medical Records – What Are the Obstacles?mentioning

confidence: 99%

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts

et al. 2014

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The goal of this paper is to review recent research on copy number variations (CNVs) and their association with complex and rare diseases. In the latter part of this paper, we focus on how large biorepositories such as the electronic medical record and genomics (eMERGE) consortium may be best leveraged to systematically mine for potentially pathogenic CNVs, and we end with a discussion of how such variants might be reported back for inclusion in electronic medical records as part of medical history.

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263.4 kb deletion within the TCF4 gene consistent with Pitt–Hopkins syndrome, inherited from a mosaic parent with normal phenotype

Cited by 21 publications

References 14 publications

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

Identification of novel genetic causes of Rett syndrome-likephenotypes

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts

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