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

doi:10.3390/genes12070950

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Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature

Gabriele Trimarchi

¹,

Stefano Giuseppe Caraffi

Francesca Clementina Radio

¹,

²,

³,

⁴,

⁵,

⁶,

⁷

⁷,

⁸,

⁹

⁵ and

^1,*

Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy

Unità Operativa di Psichiatria e Psicologia dell’Infanzia e dell’Adolescenza, DAI-SMDP, AUSL Parma, 43121 Parma, Italy

⁴

Child Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy

⁵

Rehabilitation Pediatric Unit, Azienda USL-IRCCS of Reggio Emilia, 42123 Reggio Emilia, Italy

⁶

Molecular Biology Laboratory, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy

⁷

Neuroradiology Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy

⁸

Neonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy

⁹

Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy

Author to whom correspondence should be addressed.

Academic Editor: Eun-Young Erin Ahn

Genes 2021, 12(7), 950; https://doi.org/10.3390/genes12070950

Received: 25 May 2021 / Revised: 4 June 2021 / Accepted: 19 June 2021 / Published: 22 June 2021

(This article belongs to the Collection Study on Genotypes and Phenotypes of Pediatric Clinical Rare Diseases)

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Abstract

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. View Full-Text

Keywords: adducted thumb; peripheral polyneuropathy; POGZ; White–Sutton syndrome

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MDPI and ACS Style

Trimarchi, G.; Caraffi, S.G.; Radio, F.C.; Barresi, S.; Contrò, G.; Pizzi, S.; Maini, I.; Pollazzon, M.; Fusco, C.; Sassi, S.; Nicoli, D.; Napoli, M.; Pascarella, R.; Gargano, G.; Zuffardi, O.; Tartaglia, M.; Garavelli, L. Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature. Genes 2021, 12, 950. https://doi.org/10.3390/genes12070950

AMA Style

Trimarchi G, Caraffi SG, Radio FC, Barresi S, Contrò G, Pizzi S, Maini I, Pollazzon M, Fusco C, Sassi S, Nicoli D, Napoli M, Pascarella R, Gargano G, Zuffardi O, Tartaglia M, Garavelli L. Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature. Genes. 2021; 12(7):950. https://doi.org/10.3390/genes12070950

Chicago/Turabian Style

Trimarchi, Gabriele, Stefano G. Caraffi, Francesca C. Radio, Sabina Barresi, Gianluca Contrò, Simone Pizzi, Ilenia Maini, Marzia Pollazzon, Carlo Fusco, Silvia Sassi, Davide Nicoli, Manuela Napoli, Rosario Pascarella, Giancarlo Gargano, Orsetta Zuffardi, Marco Tartaglia, and Livia Garavelli. 2021. "Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature" Genes 12, no. 7: 950. https://doi.org/10.3390/genes12070950

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