Recurrent interstitial deletions of proximal 18q: A new syndrome involving expressive speech delay

Cody, Jannine D.; Sebold, Courtney; Malik, Amtul; Heard, Patricia; Carter, Erika; Crandall, AnaLisa C.; Soileau, Bridgette; Semrud-Clikeman, Margaret; Cody, C.; Hardies, L. Jean; Li, Jinqi; Lancaster, Jack L.; Fox, Peter T.; Stratton, Robert F.; Perry, Brian P.; Hale, Daniel E.

doi:10.1002/ajmg.a.31729

Cited by 41 publications

(44 citation statements)

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“…Mental retardation is found in case reports of all three abnormalities (18p-, 18q-, and 18p tetrasomy), and in one study was estimated at 68% of all 18q deletion subjects [Semrud-Clikeman et al, 2005]. Abnormal EEG findings and epilepsy have been described in case reports for all three chromosomal disorders [Chudley et al, 1974;Wilson et al, 1979;Wilson and Al Saadi, 1989;Schinzel et al, 1991;Chudley et al, 1992;Krasikov et al, 1992;Poissonnier et al, 1992;Engelen et al, 1998;Tinkle et al, 2003;Linnankivi et al, 2006;Swingle et al, 2006;Brenk et al, 2007;Cody et al, 2007]. Many subjects with 18p or 18q deletions display delayed speech, mutism, or articulation difficulties [Thompson et al, 1986;Poissonnier et al, 1992;Grosso et al, 1999;Babovic-Vuksanovic et al, 2004;Wester et al, 2006;Brenk et al, 2007;Cody et al, 2007] and there has been one report of short Neuropsychiatric Genetics attention span in three out of three 18p-subjects [Thompson et al, 1986].…”

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confidence: 92%

“…In studies of persons with chromosome 18p-deletions, there have been reports of two persons with autism [Ghaziuddin et al, 1993;Wester et al, 2006], and one person with paranoid psychosis, depression, and subclinical obsessive compulsive disorder [Babovic-Vuksanovic et al, 2004]. In studies of 18q-syndromes, there have been individual reports of autistic features in 8 subjects [Wilson and Al Saadi, 1989;Schinzel et al, 1991;Poissonnier et al, 1992;Mahr et al, 1996;Tinkle, 2003;Linnankivi et al, 2006], attention deficit and/or hyperactivity disorder in 6 subjects [Surh et al, 1991;Chudley et al, 1992;Mahr et al, 1996;McEntagart et al, 2001;Tinkle, 2003;Cody et al, 2007], and violent/aggressive behaviors have been reported in 14 subjects [Chudley et al, 1974;Wilson and Al Saadi, 1989;Poissonnier et al, 1992;Mahr et al, 1996;McEntagart et al, 2001;Tinkle, 2003]. There is only one report of a behavioral/psychiatric problem in a case of chromosome 18p tetrasomy; an individual who had a history of aggressive, selfinjurious, and destructive behavior [Swingle et al, 2006].…”

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confidence: 96%

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Psychiatric syndromes in individuals with chromosome 18 abnormalities

Zavala

Ramirez

Medina

et al. 2009

American J of Med Genetics Pt B

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Chromosome 18 abnormalities are associated with a range of physical abnormalities such as short stature and hearing impairments. Psychiatric manifestations have also been observed. This study focuses on the presentations of psychiatric syndromes as they relate to specific chromosomal abnormalities of chromosome 18. Twenty-five subjects (13 with an 18q deletion, 9 with 18p tetrasomy, and 3 with an 18p deletion), were interviewed by psychiatrists (blind to specific chromosomal abnormality) using the DIGS (subjects 18 and older) or KSADS-PL (subjects under 18). A consensus best estimation diagnostic process was employed to determine psychiatric syndromes. Oligonucleotide Array Comparative Genomic Hybridization (Agilent Technologies) was utilized to define specific regions of chromosome 18 that were deleted or duplicated. These data were further analyzed to determine critical regions of the chromosome as they relate to phenotypic manifestations in these subjects. 58.3% of the chromosome 18q- deletion subjects had depressive symptoms, 58.3% had anxiety symptoms, 25% had manic symptoms, and 25% had psychotic symptoms. 66.6% of the chromosome 18p- deletion subjects had anxiety symptoms, and none had depressive, manic, or psychotic symptoms. Fifty percent of the chromosome 18p tetrasomy subjects had anxiety symptoms, 12.5% had psychotic symptoms, and 12.5% had a mood disorder. All three chromosomal disorders were associated with high anxiety rates. Psychotic, manic and depressive disorders were seen mostly in 18q- subjects and this may be helpful in narrowing regions for candidate genes for these psychiatric conditions.

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confidence: 92%

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confidence: 96%

Psychiatric syndromes in individuals with chromosome 18 abnormalities

Zavala

Ramirez

Medina

et al. 2009

American J of Med Genetics Pt B

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“…An intense literature [Cody et al, 2007;Smith, 2007;Gibson and Gruen, 2008;Fisher and Scharff, 2009;Caglayan, 2010;Newbury and Monaco, 2010;Scherer and Dawson, 2011] and database (http://www.mindspec.org/autdb.html) research revealed 244 genes associated with human-specific communication ( table 1 ). These genes have been associated with autism spectrum, reading, speech, and language disorders.…”

Section: Database Analysesmentioning

confidence: 99%

A High Density of Human Communication-Associated Genes in Chromosome 7q31-q36: Differential Expression in Human and Non-Human Primate Cortices

Schneider

Jensen²,

Farcas

et al. 2012

Cytogenet Genome Res

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The human brain is distinguished by its remarkable size, high energy consumption, and cognitive abilities compared to all other mammals and non-human primates. However, little is known about what has accelerated brain evolution in the human lineage. One possible explanation is that the appearance of advanced communication skills and language has been a driving force of human brain development. The phenotypic adaptations in brain structure and function which occurred on the way to modern humans may be associated with specific molecular signatures in today’s human genome and/or transcriptome. Genes that have been linked to language, reading, and/or autism spectrum disorders are prime candidates when searching for genes for human-specific communication abilities. The database and genome-wide expression analyses we present here revealed a clustering of such communication-associated genes (COAG) on human chromosomes X and 7, in particular chromosome 7q31-q36. Compared to the rest of the genome, we found a high number of COAG to be differentially expressed in the cortices of humans and non-human primates (chimpanzee, baboon, and/or marmoset). The role of X-linked genes for the development of human-specific cognitive abilities is well known. We now propose that chromosome 7q31-q36 also represents a hot spot for the evolution of human-specific communication abilities. Selective pressure on the T cell receptor beta locus on chromosome 7q34, which plays a pivotal role in the immune system, could have led to rapid dissemination of positive gene variants in hitchhiking COAG.

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“…Interestingly, individual 18q-104C had a proximal interstitial deletion of 18q and is the only one of Wve with essentially the same deletion who had an AQ score indicating a high probably of autism (Cody et al 2007). However, one genetic diVerence between this individual and the other four interstitial deletions is the presence of a second small (3.5 Kb) 18q interstitial deletion between the NETO1 and the FBXO15 genes.…”

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confidence: 99%

Genetic determinants of autism in individuals with deletions of 18q

et al. 2010

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Previous research has suggested that individuals with constitutional hemizygosity of 18q have a higher risk of autistic-like behaviors. We sought to identify genomic factors located on chromosome 18 as well as other loci that correlate with autistic behaviors. One hundred and five individuals with 18q- were assessed by high-resolution oligo aCGH and by parental ratings of behavior on the Gilliam Autism Rating Scale. Forty-five individuals (43%) had scores within the "possibly" or "very likely" categories of risk for an autism diagnosis. We searched for genetic determinants of autism by (1) identifying additional chromosome copy number changes (2) Identifying common regions of hemizygosity on 18q, and (3) evaluating four regions containing candidate genes located on 18q (MBD1, TCF4, NETO1, FBXO15). Three individuals with a "very likely" probability of autism had a captured 17p telomere in addition to the 18q deletion suggesting a possible synergy between hemizygosity of 18q and trigosity of 17p. In addition, two of the individuals with an 18q deletion and a "very likely" probability of autism rating had a duplication of the entire short arm of chromosome 18. Although no common region of hemizygosity on 18q was identified, analysis of four regions containing candidate genes suggested that individuals were significantly more likely to exhibit autistic-like behaviors if their region of hemizygosity included TCF4, NETO1, and FBXO15 than if they had any other combination of hemizygosity of the candidate genes. Taken together, these findings identify several new potential candidate genes or regions for autistic behaviors.

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Recurrent interstitial deletions of proximal 18q: A new syndrome involving expressive speech delay

Cited by 41 publications

References 20 publications

Psychiatric syndromes in individuals with chromosome 18 abnormalities

Psychiatric syndromes in individuals with chromosome 18 abnormalities

A High Density of Human Communication-Associated Genes in Chromosome 7q31-q36: Differential Expression in Human and Non-Human Primate Cortices

Genetic determinants of autism in individuals with deletions of 18q

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