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Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature
One of the recently described syndromes emerging from the massive study of cohorts of undiagnosed patients with autism spectrum disorders (ASD) and syndromic intellectual disability (ID) is White–Sutton syndrome (WHSUS) (MIM #616364), caused by variants in the POGZ gene (MIM *614787), located on the...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303405/ https://www.ncbi.nlm.nih.gov/pubmed/34206215 http://dx.doi.org/10.3390/genes12070950 |
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author | Trimarchi, Gabriele Caraffi, Stefano Giuseppe Radio, Francesca Clementina Barresi, Sabina Contrò, Gianluca Pizzi, Simone Maini, Ilenia Pollazzon, Marzia Fusco, Carlo Sassi, Silvia Nicoli, Davide Napoli, Manuela Pascarella, Rosario Gargano, Giancarlo Zuffardi, Orsetta Tartaglia, Marco Garavelli, Livia |
author_facet | Trimarchi, Gabriele Caraffi, Stefano Giuseppe Radio, Francesca Clementina Barresi, Sabina Contrò, Gianluca Pizzi, Simone Maini, Ilenia Pollazzon, Marzia Fusco, Carlo Sassi, Silvia Nicoli, Davide Napoli, Manuela Pascarella, Rosario Gargano, Giancarlo Zuffardi, Orsetta Tartaglia, Marco Garavelli, Livia |
author_sort | Trimarchi, Gabriele |
collection | PubMed |
description | One of the recently described syndromes emerging from the massive study of cohorts of undiagnosed patients with autism spectrum disorders (ASD) and syndromic intellectual disability (ID) is White–Sutton syndrome (WHSUS) (MIM #616364), caused by variants in the POGZ gene (MIM *614787), located on the long arm of chromosome 1 (1q21.3). So far, more than 50 individuals have been reported worldwide, although phenotypic features and natural history have not been exhaustively characterized yet. The phenotypic spectrum of the WHSUS is broad and includes moderate to severe ID, microcephaly, variable cerebral malformations, short stature, brachydactyly, visual abnormalities, sensorineural hearing loss, hypotonia, sleep difficulties, autistic features, self-injurious behaviour, feeding difficulties, gastroesophageal reflux, and other less frequent features. Here, we report the case of a girl with microcephaly, brain malformations, developmental delay (DD), peripheral polyneuropathy, and adducted thumb—a remarkable clinical feature in the first years of life—and heterozygous for a previously unreported, de novo splicing variant in POGZ. This report contributes to strengthen and expand the knowledge of the clinical spectrum of WHSUS, pointing out the importance of less frequent clinical signs as diagnostic handles in suspecting this condition. |
format | Online Article Text |
id | pubmed-8303405 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-83034052021-07-25 Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature Trimarchi, Gabriele Caraffi, Stefano Giuseppe Radio, Francesca Clementina Barresi, Sabina Contrò, Gianluca Pizzi, Simone Maini, Ilenia Pollazzon, Marzia Fusco, Carlo Sassi, Silvia Nicoli, Davide Napoli, Manuela Pascarella, Rosario Gargano, Giancarlo Zuffardi, Orsetta Tartaglia, Marco Garavelli, Livia Genes (Basel) Article One of the recently described syndromes emerging from the massive study of cohorts of undiagnosed patients with autism spectrum disorders (ASD) and syndromic intellectual disability (ID) is White–Sutton syndrome (WHSUS) (MIM #616364), caused by variants in the POGZ gene (MIM *614787), located on the long arm of chromosome 1 (1q21.3). So far, more than 50 individuals have been reported worldwide, although phenotypic features and natural history have not been exhaustively characterized yet. The phenotypic spectrum of the WHSUS is broad and includes moderate to severe ID, microcephaly, variable cerebral malformations, short stature, brachydactyly, visual abnormalities, sensorineural hearing loss, hypotonia, sleep difficulties, autistic features, self-injurious behaviour, feeding difficulties, gastroesophageal reflux, and other less frequent features. Here, we report the case of a girl with microcephaly, brain malformations, developmental delay (DD), peripheral polyneuropathy, and adducted thumb—a remarkable clinical feature in the first years of life—and heterozygous for a previously unreported, de novo splicing variant in POGZ. This report contributes to strengthen and expand the knowledge of the clinical spectrum of WHSUS, pointing out the importance of less frequent clinical signs as diagnostic handles in suspecting this condition. MDPI 2021-06-22 /pmc/articles/PMC8303405/ /pubmed/34206215 http://dx.doi.org/10.3390/genes12070950 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Trimarchi, Gabriele Caraffi, Stefano Giuseppe Radio, Francesca Clementina Barresi, Sabina Contrò, Gianluca Pizzi, Simone Maini, Ilenia Pollazzon, Marzia Fusco, Carlo Sassi, Silvia Nicoli, Davide Napoli, Manuela Pascarella, Rosario Gargano, Giancarlo Zuffardi, Orsetta Tartaglia, Marco Garavelli, Livia Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature |
title | Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature |
title_full | Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature |
title_fullStr | Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature |
title_full_unstemmed | Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature |
title_short | Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature |
title_sort | adducted thumb and peripheral polyneuropathy: diagnostic supports in suspecting white–sutton syndrome: case report and review of the literature |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303405/ https://www.ncbi.nlm.nih.gov/pubmed/34206215 http://dx.doi.org/10.3390/genes12070950 |
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