Two unrelated individuals carrying rare mosaic deletions in <i>TCF4</i> gene

Kousoulidou, Ludmila; Alexandrou, Angelos; Papaevripidou, Ioannis; Evangelidou, Paola; Tanteles, George A.; Anastasiadou, Violetta; Sismani, Carolina

doi:10.1002/ajmg.a.60692

Cited by 4 publications

(2 citation statements)

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“…The phenotype of our patient was suggestive for PTHS, being similar to that reported in the literature previously [ 5 , 6 , 7 , 26 ]. We recommend the periodic reevaluation of PTHS patients without genetic confirmation and especially of PTH-like patients or patients where the clinical diagnosis is not precise, with a clinical diagnostic score ≤ 8 [ 1 ], suggesting possible PTHS.…”

Section: Discussionsupporting

confidence: 90%

Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient

Tripon

Bogliș

Micheu

et al. 2020

Genes

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Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in the TCF4 gene associate mild intellectual disability (ID), between exons 5 to 8, moderate to severe ID and sometimes have some of the characteristics of PTHS, and variants starting from exon 9 to exon 20 associate a typical PTHS phenotype. In this report, we describe the clinical and molecular findings of a Caucasian boy diagnosed with PTHS. PTHS phenotype is described including craniofacial dysmorphism with brachycephaly, biparietal narrowing, wide nasal bridge, thin and linear lateral eyebrows, palpebral edema, full cheeks, short philtrum, wide mouth with prominent and everted lips, prominent Cupid’s bow, downturned corners of the mouth, microdontia and also the clinical management of the patient. The previously and the current diagnosis scores are described in this report and also the challenges and their benefits for an accurate and early diagnosis.

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Section: Discussionsupporting

confidence: 90%

Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient

Tripon

Bogliș

Micheu

et al. 2020

Genes

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show abstract

“…The prevalence of PTHS is estimated to be between 1:34,000 and 1:41,000 (Rosenfeld et al, 2009), but the number of cases of PTHS confirmed by genetic analysis worldwide is only 273-500 (Goodspeed et al, 2018). As of this writing, a total of five individuals with mosaic TCF4 aberrations have been described who have reproduced children with PTHS and the mosaic ratio has not exceeded 26% (de Pontual et al, 2009;Jehee et al, 2017;Kousoulidou et al, 2013;Kousoulidou et al, 2018;Steinbusch et al, 2013). It has also been reported that patients with nonspecific mild intellectual disability attributable to TCF4 variants have reproduced successfully.…”

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confidence: 92%