Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient
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 <i>TCF4</i> gene associate mild intellectual disability (I...
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doaj-8cb7fa69714f4d8c8fa412f67d98d5ca2020-11-25T03:07:28ZengMDPI AGGenes2073-44252020-05-011159659610.3390/genes11060596Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old PatientFlorin Tripon0Alina Bogliș1Cristian Micheu2Ioana Streață3Claudia Bănescu4Laboratory of Medical Genetics, Emergency Clinical County Hospital Târgu Mureș, 540136 Târgu Mureș, RomaniaLaboratory of Medical Genetics, Emergency Clinical County Hospital Târgu Mureș, 540136 Târgu Mureș, RomaniaChild Neurology Psychiatry Clinic, Clinical County Hospital Mureș, 540072 Târgu Mureş, RomaniaRegional Center for Medical Genetics Dolj—Clinical County Emergency Hospital Craiova, University of Medicine and Pharmacy Craiova, 200642 Craiova, RomaniaLaboratory of Medical Genetics, Emergency Clinical County Hospital Târgu Mureș, 540136 Târgu Mureș, RomaniaPitt 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 <i>TCF4</i> 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.https://www.mdpi.com/2073-4425/11/6/596Pitt-Hopkins syndrome<i>TCF4</i> deletionneurodevelopment disorderFace2Gene |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Florin Tripon Alina Bogliș Cristian Micheu Ioana Streață Claudia Bănescu |
spellingShingle |
Florin Tripon Alina Bogliș Cristian Micheu Ioana Streață Claudia Bănescu Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient Genes Pitt-Hopkins syndrome <i>TCF4</i> deletion neurodevelopment disorder Face2Gene |
author_facet |
Florin Tripon Alina Bogliș Cristian Micheu Ioana Streață Claudia Bănescu |
author_sort |
Florin Tripon |
title |
Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient |
title_short |
Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient |
title_full |
Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient |
title_fullStr |
Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient |
title_full_unstemmed |
Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient |
title_sort |
pitt-hopkins syndrome: clinical and molecular findings of a 5-year-old patient |
publisher |
MDPI AG |
series |
Genes |
issn |
2073-4425 |
publishDate |
2020-05-01 |
description |
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 <i>TCF4</i> 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. |
topic |
Pitt-Hopkins syndrome <i>TCF4</i> deletion neurodevelopment disorder Face2Gene |
url |
https://www.mdpi.com/2073-4425/11/6/596 |
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