Margherita Silengo

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi, Daniela Santodirocco et autres

PURPOSE: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate …

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Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease

Eleonora Di Zanni, Annalisa Adamo, Elga Fabia Belligni, Margherita Lerone et autres

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Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

Eleonora Di Gregorio, Evelise Riberi, Elga Fabia Belligni, Elisa Biamino et autres

BACKGROUND: Array-comparative genomic hybridization (array-CGH) is a widely used technique to detect copy number variants (CNVs) associated with developmental delay/intellectual disability (DD/ID). AIMS: Identification of genomic disorders in DD/ID. MATERIALS AND METHODS: We performed a comprehensive array-CGH investigation of 1,015 consecutive cases …

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Clinical findings in Mowat-Wilson syndrome: a study of 80 patients

Livia Garavelli, Ivan Ivanovski, SG Caraffi, Daniela Santodirocco et autres

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco et autres

PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no …

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Cover Image, Volume 170A, Number 7, July 2016

Elisa Giorgio, Andrea Ciolfi, Elisa Biamino, Viviana Caputo et autres

The cover image, by Alfredo Brusco et al., is based on the Original Article Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain signifi cance: Two proof-of-concept examples, DOI: 10.1002/ajmg.a.37649.

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Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof‐of‐concept examples

Elisa Giorgio, Andrea Ciolfi, Elisa Biamino, Viviana Caputo et autres

Whole exome sequencing (WES) is a powerful tool to identify clinically undefined forms of intellectual disability/developmental delay (ID/DD), especially in consanguineous families. Here we report the genetic definition of two sporadic cases, with syndromic ID/DD for whom array-Comparative Genomic Hybridization (aCGH) identified …

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Prevention and management of hearing loss in syndromic craniosynostosis: A case series

Elisa Biamino, Andrea Canale, Michelangelo Lacilla, Annalisa Marinosci et autres

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Fetal growth patterns in Beckwith–Wiedemann syndrome

Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Andrea Freschi et autres

We provide data on fetal growth pattern on the molecular subtypes of Beckwith-Wiedemann syndrome (BWS): IC1 gain of methylation (IC1-GoM), IC2 loss of methylation (IC2-LoM), 11p15.5 paternal uniparental disomy (UPD), and CDKN1C mutation. In this observational study, gestational ages and neonatal growth …

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A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity

Elisa Biamino, Eleonora Di Gregorio, Elga Fabia Belligni, Roberto Keller et autres

Copy number variation (CNV) has been associated with a variety of neuropsychiatric disorders, including intellectual disability/developmental delay (ID/DD), autism spectrum disorder (ASD), and schizophrenia (SCZ). Often, individuals carrying the same pathogenic CNV display high clinical variability. By array-CGH analysis, we identified a …

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Hippocampal malrotation in supernumerary der(22) syndrome and epilepsy: a case report

Sergio Duca, Annalisa Isocrono, Margherita Silengo, Piernanda Vigliano

We report the clinical, electroencephalographic and neuroradiologic findings of a patient with supernumerary der(22) syndrome – partial 22 trisomy, derived from a (11;22) maternal translocation – and a wide spectrum of cerebral malformation. Magnetic resonance study evidenced a partial midline defect (hypoplasia …

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(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Andrea Freschi et autres

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