Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature
| Autor: | Orsetta Zuffardi, Gabriele Trimarchi, Marco Tartaglia, Marzia Pollazzon, Ilenia Maini, Davide Nicoli, Carlo Fusco, Simone Pizzi, Manuela Napoli, Stefano Giuseppe Caraffi, Livia Garavelli, Rosario Pascarella, Francesca Clementina Radio, Sabina Barresi, Silvia Sassi, Gianluca Contrò, Giancarlo Gargano |
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| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine peripheral polyneuropathy Pediatrics medicine.medical_specialty Microcephaly Autism Spectrum Disorder POGZ White–Sutton syndrome Transposases QH426-470 Short stature Article Polyneuropathies 03 medical and health sciences adducted thumb 0302 clinical medicine Intellectual Disability Exome Sequencing Intellectual disability Genetics medicine Humans Genetic Predisposition to Disease Genetics (clinical) business.industry Brachydactyly Infant medicine.disease Hypotonia Natural history 030104 developmental biology Chromosomes Human Pair 1 Autism Female Sensorineural hearing loss medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Genes Genes, Vol 12, Iss 950, p 950 (2021) Volume 12 Issue 7 |
| ISSN: | 2073-4425 |
| DOI: | 10.3390/genes12070950 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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