A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation

Özgen, Heval; Barber, John; Jonge, Maretha; Eleveld, Marc J.; Beemer, Frits A.; Hochstenbach, Ron; Poot, Martin

doi:10.1007/s10803-008-0627-x

Cited by 15 publications

(12 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Several of these cases have been described in detail. [39][40][41][42][43][44] In addition, we found nine inherited segmental aneuploidies. The 20 de novo aberrations encompassed 125 BAC probes, 14 of which were also identified as single CNCs shared among at least 2 other patients and 5 among the 48 healthy individuals of our study population.…”

Section: Resultsmentioning

confidence: 75%

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

et al. 2009

Self Cite

View full text Add to dashboard Cite

Section: Resultsmentioning

confidence: 75%

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

et al. 2009

Self Cite

View full text Add to dashboard Cite

“…The classical inv dup del(8p) in patient 1 contained at least three candidate genes for ASD. MCPH1 and DLGAP2 are both within the 6.9 Mb terminal deletion, distal to REPD, and NEF3 is within the concomitant 14.1 Mb duplication as well as the 6.1 Mb duplication of 8p21 reported in a further patient with syndromic autism (33). The deleted region in patient 1 also partially overlaps with a transmitted 6.8 Mb duplication of 8p23.1 to 8p23.2 found in a boy with international classification of disease, version 10 (ICD-10) autism and speech delay as well as in his mother with epilepsy and learning difficulties (15).…”

Section: Discussionmentioning

confidence: 79%

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders

Özgen

Daalen²,

Bolton

et al. 2009

Clinical Genetics

View full text Add to dashboard Cite

Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5-10% of the patients with ASD, and recent applications of array comparative genomic hybridisation (aCGH) are identifying further candidate regions and genes. In this study, we present four patients who implicate microcephalin 1 (MCPH1) in band 8p23.1 as an ASD susceptibility gene. Patient 1 was a girl with a syndromic form of autistic disorder satisfying the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS) and Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. Oligonucleotide aCGH (oaCGH) showed that she had a classic inv dup del(8)(qter-> p23.1::p23.1-> p21.2) containing at least three candidate genes; MCPH1 and DLGAP2 within the 6.9-Mb terminal deletion and NEF3 within the concomitant 14.1-Mb duplication. Three further patients with MCPH1 copy number changes were found using single-nucleotide polymorphism (SNP) array analysis in a cohort of 54 families with ASD patients. Our results show that ASD can be a component of the classical inv dup del(8) phenotype and identify changes in copy number of MCPH1 as a susceptibility factor for ASD in the distal short arm of chromosome 8.

show abstract

“…An 8p23.1→ 8p23.2 duplication spread over 6.8 Mb has been reported in a child with speech delay and autism and his mother, with epilepsy and learning problems. The interval included 41 known genes and 32 new genes among which the MCPH1 gene was thought to be the only plausible candidate gene for autism (16). Papanikolaou et al (14) described a patient with partial trisomy 8p(21-23) associated with autism, mild dysmorphic features, and moderate learning disability.…”

Section: Discussionmentioning

confidence: 99%

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

et al. 2020

View full text Add to dashboard Cite

Duplications of chromosome 8p lead to rare genetic conditions characterized by variable phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only 8p23 duplication was associated with heart defects. 8p22→ p21.3 duplications were associated with an autism spectrum disorder in several cases. We present a rare case with a de novo duplication of the entire 8p21.3→ p23.3 region, documented by karyotype, FISH, and array CGH, with t(4;8)(q35;p21.3) translocation in a 7 years-old girl. She was referred for genetic counseling at the age of 20 months due to mild dysmorphic facial features, psychomotor retardation, and a noncyanotic heart defect. Another examination carried out at the age of 5 years, enabled the diagnosis of autism spectrum disorder and attention deficit hyperactivity disorder. Upon re-examination after two years she was diagnosed with autism spectrum disorder, attention deficit hyperactivity disorder, liminal intellect with cognitive disharmony, delay in psychomotor acquisitions, developmental language delay, an instrumental disorder, and motor coordination disorder. Cytogenetic analysis using GTG technique revealed the following karyotype: 46,XX,der(4),t(4;8)(q35;p21.3). The translocation of the duplicated 8pter region to the telomeric region 4q was confirmed by FISH analysis (DJ580L5 probe). Array CGH showed: arr[GRCh37]8p23.3p21.3(125733_22400607)×3. It identified a terminal duplication, a 22.3 Mb copy number gain of chromosome 8p23.3-p21.3, between 125,733 and 22,400,607. In this case, there is a de novo duplication of a large chromosomal segment, which was translocated to chromosome 4q. Our report provides additional data regarding neuropsychiatric features in chromosome 8p duplication. The phenotypic consequences in our patient allow clinical-cytogenetic correlations and may also reveal candidate genes for the phenotypic features.

show abstract

A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation

Abstract: Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with a strong genetic etiology. Cytogenetic abnormalities have been detected in 5-10% of the patients with autism.

Cited by 15 publications

References 27 publications

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

Contact Info

Product

Resources

About