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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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.
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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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