1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child

Cobb, W. Montague; Anderson, Arne; Turner, Clesson; Hoffman, Ruth D.; Schonberg, Steven; Levin, Sondra W.

doi:10.1016/j.ejmg.2010.08.009

Cited by 20 publications

(21 citation statements)

References 9 publications

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“…Recently, Carroll et al, [2011] identified rare mutations in one gene (DLG1) highlighting its potential involvement in the schizophrenia phenotype. The variability in expression is further supported by a case report of a child with autistic features, an elongated face, and normal IQ [Cobb et al, 2010]. Pathogenicity of the reciprocal duplication remains uncertain with the loci failing to reach significance in ID/DD and the observation that a family carrying the duplication also carries a second CNV that may explain the clinical features [Ballif et al, 2008;Cooper et al, 2011].…”

Section: Variable Expressivity Of Specific Locimentioning

confidence: 64%

The genetic variability and commonality of neurodevelopmental disease

Coe¹,

Girirajan²,

Eichler

2012

American J of Med Genetics Pt C

106

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Despite detailed clinical definition and refinement of neurodevelopmental disorders and neuropsychiatric conditions, the underlying genetic etiology has proved elusive. Recent genetic studies have revealed some common themes: considerable locus heterogeneity, variable expressivity for the same mutation, and a role for multiple disruptive events in the same individual affecting genes in common pathways. Recurrent copy number variation (CNV), in particular, has emphasized the importance of either de novo or essentially private mutations creating imbalances for multiple genes. CNVs have foreshadowed a model where the distinction between milder neuropsychiatric conditions from those of severe developmental impairment may be a consequence of increased mutational burden affecting more genes.

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Section: Variable Expressivity Of Specific Locimentioning

confidence: 64%

The genetic variability and commonality of neurodevelopmental disease

Coe¹,

Girirajan²,

Eichler

2012

American J of Med Genetics Pt C

106

View full text Add to dashboard Cite

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“…The clinical phenotype is extremely heterogeneous and includes mild to moderate intellectual disability (90-100%), speech delay (50%), delayed walking (50%), autistic features (25%), and ataxic gait (25-30%) [Willatt et al, 2005;Ballif et al, 2008;Digilio et al, 2009;Cobb et al, 2010]. Most cases exhibit mildly dysmorphic features that include short stature (40%), microcephaly (50-60%), a long-narrow face, short philtrum (50-60%), high nasal bridge (60-75%), and large ears (35%) [Willatt et al, 2005;Ballif et al, 2008;Digilio et al, 2009;Cobb et al, 2010].…”

Section: Discussionmentioning

confidence: 99%

Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome

Fernández-Jaén

Castellanos

Fernández-Perrone

et al. 2014

American J of Med Genetics Pt A

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Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first clinical case with a 1.607 Mb duplication at 3q29 (chr3: 195,731,956-197,339,329), accompanied by severe intellectual disability, epilepsy, and cerebral palsy. This duplication involves 22 genes; PAK2, DLG1, BDH1, and FBXO45 are implicated in neuronal development and synaptic function and could play an important role in this syndrome. We propose considering genetic studies, particularly array comparative genomic hybridization, in patients with epilepsy and/or cerebral palsy of unknown etiology when dysmorphic features are present.

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“…Only two patients with normal intelligence and 3q29 deletion were previously described. 34,35 Among the 22 genes included in the 1.6 Mb deletion, several genes including FBXO45, DLG1, BDH1 or PAK2 (involved in brain development or synaptic transmission) and NCBP2 (involved in RNA processes such as splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing by microRNAs and mRNA export) represent candidate genes possibly contributing to ASD.…”

Section: Discussionmentioning

confidence: 99%

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

et al. 2013

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Copy number variants (CNVs) have repeatedly been found to cause or predispose to autism spectrum disorders (ASDs). For diagnostic purposes, we screened 194 individuals with ASDs for CNVs using Illumina SNP arrays. In several probands, we also analyzed candidate genes located in inherited deletions to unmask autosomal recessive variants. Three CNVs, a de novo triplication of chromosome 15q11-q12 of paternal origin, a deletion on chromosome 9p24 and a de novo 3q29 deletion, were identified as the cause of the disorder in one individual each. An autosomal recessive cause was considered possible in two patients: a homozygous 1p31.1 deletion encompassing PTGER3 and a deletion of the entire DOCK10 gene associated with a rare hemizygous missense variant. We also identified multiple private or recurrent CNVs, the majority of which were inherited from asymptomatic parents. Although highly penetrant CNVs or variants inherited in an autosomal recessive manner were detected in rare cases, our results mainly support the hypothesis that most CNVs contribute to ASDs in association with other CNVs or point variants located elsewhere in the genome. Identification of these genetic interactions in individuals with ASDs constitutes a formidable challenge.

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1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child

Cited by 20 publications

References 9 publications

The genetic variability and commonality of neurodevelopmental disease

The genetic variability and commonality of neurodevelopmental disease

Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

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