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Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient.
Genes (Basel). 2020 May 28; 11(6)G

Abstract

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.

Authors+Show Affiliations

Laboratory of Medical Genetics, Emergency Clinical County Hospital Târgu Mureș, 540136 Târgu Mureș, Romania. Department of Genetics, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș, 540142 Târgu Mureș, Romania. Laboratory of Molecular Biology/Genetics, Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș, 540142 Târgu Mureș, Romania.Laboratory of Medical Genetics, Emergency Clinical County Hospital Târgu Mureș, 540136 Târgu Mureș, Romania. Department of Genetics, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș, 540142 Târgu Mureș, Romania. Laboratory of Molecular Biology/Genetics, Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș, 540142 Târgu Mureș, Romania.Child Neurology Psychiatry Clinic, Clinical County Hospital Mureș, 540072 Târgu Mureş, Romania.Regional Center for Medical Genetics Dolj-Clinical County Emergency Hospital Craiova, University of Medicine and Pharmacy Craiova, 200642 Craiova, Romania.Laboratory of Medical Genetics, Emergency Clinical County Hospital Târgu Mureș, 540136 Târgu Mureș, Romania. Department of Genetics, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș, 540142 Târgu Mureș, Romania. Laboratory of Molecular Biology/Genetics, Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș, 540142 Târgu Mureș, Romania.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

32481733

Citation

Tripon, Florin, et al. "Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient." Genes, vol. 11, no. 6, 2020.
Tripon F, Bogliș A, Micheu C, et al. Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient. Genes (Basel). 2020;11(6).
Tripon, F., Bogliș, A., Micheu, C., Streață, I., & Bănescu, C. (2020). Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient. Genes, 11(6). https://doi.org/10.3390/genes11060596
Tripon F, et al. Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient. Genes (Basel). 2020 May 28;11(6) PubMed PMID: 32481733.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient. AU - Tripon,Florin, AU - Bogliș,Alina, AU - Micheu,Cristian, AU - Streață,Ioana, AU - Bănescu,Claudia, Y1 - 2020/05/28/ PY - 2020/04/14/received PY - 2020/05/20/revised PY - 2020/05/27/accepted PY - 2020/6/3/entrez PY - 2020/6/3/pubmed PY - 2020/6/3/medline KW - Face2Gene KW - Pitt-Hopkins syndrome KW - TCF4 deletion KW - neurodevelopment disorder JF - Genes JO - Genes (Basel) VL - 11 IS - 6 N2 - 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. SN - 2073-4425 UR - https://www.unboundmedicine.com/medline/citation/32481733/Pitt-Hopkins_Syndrome:_Clinical_and_Molecular_Findings_of_a_5-Year-Old_Patient L2 - https://www.mdpi.com/resolver?pii=genes11060596 DB - PRIME DP - Unbound Medicine ER -
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