Copy number variants at Williams–Beuren syndrome 7q11.23 region

Merla, Giuseppe; Brunetti‐Pierri, Nicola; Micale, Lucia; Fusco, Carmela

doi:10.1007/s00439-010-0827-2

Cited by 134 publications

(133 citation statements)

References 227 publications

(307 reference statements)

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“…Other clinical features include growth retardation, hyperacusis, premature ageing, hypercalcemia, glucose intolerance, renal anomalies, dental defects, gastrointestinal problems, urinary tract abnormalities, weakness in daily living skills, and motor abilities. 1 The dissection of the WBS phenotype relies mainly on evidences from functional studies of single genes, animal models, and analysis of WBS individuals with atypical deletions. These studies suggest correlations between haploinsufficiency of some WBS genes and WBS phenotypic features.…”

Section: Introductionmentioning

confidence: 99%

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

et al. 2013

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syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5 Mb on chromosome 7q11.23 spanning 28 genes. A few patients with larger and smaller WBS deletion have been reported. They show clinical features that vary between isolated SVAS to the full spectrum of WBS phenotype, associated with epilepsy or autism spectrum behavior. Here we describe four patients with atypical WBS 7q11.23 deletions. Two carry B3.5 Mb larger deletion towards the telomere that includes Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxigenase activation protein gamma (YWHAG) genes. Other two carry a shorter deletion of B1.2 Mb at centromeric side that excludes the distal WBS genes BAZ1B and FZD9. Along with previously reported cases, genotype-phenotype correlation in the patients described here further suggests that haploinsufficiency of HIP1 and YWHAG might cause the severe neurological and neuropsychological deficits including epilepsy and autistic traits, and that the preservation of BAZ1B and FZD9 genes may be related to mild facial features and moderate neuropsychological deficits. This report highlights the importance to characterize additional patients with 7q11.23 atypical deletions comparing neuropsychological and clinical features between these individuals to shed light on the pathogenic role of genes within and flanking the WBS region.

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Section: Introductionmentioning

confidence: 99%

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

et al. 2013

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“…WBS is characterized by a hypersocial personality, cognitive deficits (particularly in visuospatial skills), anxiety, facial dysmorphisms (e.g., flat nasal bridge, upturned nose, and delicate chin), cardiovascular disease, growth retardation, and connective tissue abnormalities [118]. The deleted region is referred to as the WBS chromosome region 1.5 Mb (95%) or 1.8 Mb (5%) [119].…”

Section: Q1123mentioning

confidence: 99%

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

et al. 2015

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Autism spectrum disorder (ASD) is a group of highly genetic neurodevelopmental disorders characterized by language, social, cognitive, and behavioral abnormalities. ASD is a complex disorder with a heterogeneous etiology. The genetic architecture of autism is such that a variety of different rare mutations have been discovered, including rare monogenic conditions that involve autistic symptoms. Also, de novo copy number variants and single nucleotide variants contribute to disease susceptibility. Finally, autosomal recessive loci are contributing to our understanding of inherited factors. We will review the progress that the field has made in the discovery of these rare genetic variants in autism. We argue that mutation discovery of this sort offers an important opportunity to identify neurodevelopmental mechanisms in disease. The hope is that these mechanisms will show some degree of convergence that may be amenable to treatment intervention.

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“…2 Posteriormente, otros autores reportaron pacientes con la misma deleción y que, además, presentaban labio superior delgado, asimetría facial, macrocefalia, hipotonía, retardo en el desarrollo psicomotor, grave compromiso del lenguaje, coeficiente intelectual promedio o déficit moderado. [2][3][4] La prevalencia para esta patología es desconocida y la mayoría de los casos descritos se deben a mutaciones de novo, pero, para los hijos de los afectados, la herencia se comporta como autosómica dominante. 1,5 El objetivo de esta publicación es reportar sobre una paciente colombiana con hallazgo de duplicación 7q11.23 mediante técnicas de hibridación genómica comparativa y hallazgos clínicos clásicos.…”

Section: Introductionunclassified

Síndrome de duplicación 7q11.23. Primer caso descrito en América Latina

2016

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RESUMENEl síndrome de duplicación 7q11.23 es una patología causada por la duplicación de una región del cromosoma 7 que comprende 26 genes. El primer caso descrito en la literatura fue reportado por Somerville et al., en el año 2005, quienes describieron un paciente con dolicocefalia, frente alta y estrecha, pestañas largas, nariz alta y ancha, filtrum corto, paladar ojival, maloclusión dental, retrognatia y retardo grave en el lenguaje. Presentamos una paciente colombiana con hallazgo de duplicación 7q11.23 mediante técnicas de hibridación genómica comparativa y hallazgos clínicos clásicos. Este es el primer caso comunicado en Colombia y en América Latina. ABSTRACT 7q11.23 duplication syndrome is a disease caused by duplication of a region of chromosome 7 comprising 26 genes. The first case described in the literature was reported by Somerville et al. in 2005, who described a patient with dolichocephaly, high and narrow forehead, long eyelashes, high and wide nose, short philtrum, high arched palate, dental malocclusion, retrognathia, and severe language delay. We report the case of a Colombian patient with 7q11.23 duplication by comparative genomic hybridization techniques, and classical clinical findings, this being the first reported case in Colombia and Latin America.

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Copy number variants at Williams–Beuren syndrome 7q11.23 region

Cited by 134 publications

References 227 publications

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

Síndrome de duplicación 7q11.23. Primer caso descrito en América Latina

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