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15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.

https://arctichealth.org/en/permalink/ahliterature287813
Source
Transl Psychiatry. 2017 Apr 25;7(4):e1109
Publication Type
Article
Date
Apr-25-2017
Author
M O Ulfarsson
G B Walters
O. Gustafsson
S. Steinberg
A. Silva
O M Doyle
M. Brammer
D F Gudbjartsson
S. Arnarsdottir
G A Jonsdottir
R S Gisladottir
G. Bjornsdottir
H. Helgason
L M Ellingsen
J G Halldorsson
E. Saemundsen
B. Stefansdottir
L. Jonsson
V K Eiriksdottir
G R Eiriksdottir
G H Johannesdottir
U. Unnsteinsdottir
B. Jonsdottir
B B Magnusdottir
P. Sulem
U. Thorsteinsdottir
E. Sigurdsson
D. Brandeis
A. Meyer-Lindenberg
H. Stefansson
K. Stefansson
Source
Transl Psychiatry. 2017 Apr 25;7(4):e1109
Date
Apr-25-2017
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Chromosome Aberrations
Chromosome Deletion
Chromosomes, Human, Pair 15 - genetics
Cognition - physiology
DNA Copy Number Variations - genetics
Developmental Disabilities - genetics
Dyscalculia - genetics
Dyslexia - genetics
Female
Functional Neuroimaging - methods - standards
Heterozygote
Humans
Iceland - epidemiology
Intellectual Disability - genetics
Magnetic Resonance Imaging - methods
Male
Middle Aged
Neuropsychological Tests - standards
Phenotype
Temporal Lobe - anatomy & histology - diagnostic imaging
Young Adult
Abstract
Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1-BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.
Notes
Cites: Psychol Bull. 2005 Jul;131(4):592-61716060804
Cites: Neuroimage. 2009 Feb 1;44(3):1103-1219027075
Cites: Trends Neurosci. 2001 Sep;24(9):508-1111506881
Cites: J Learn Disabil. 2013 Nov-Dec;46(6):549-6923572008
Cites: Neuroimage. 2011 Aug 1;57(3):742-920884362
Cites: Cogn Neuropsychol. 2003 May 1;20(3):487-50620957581
Cites: Genet Med. 2013 Jun;15(6):478-8123258348
Cites: Neuroimage. 2009 Oct 1;47(4):1940-919446640
Cites: Brain. 2000 Feb;123 ( Pt 2):291-30710648437
Cites: PLoS One. 2012;7(8):e4312222916214
Cites: Nature. 2015 Apr 9;520(7546):224-925607358
Cites: Proc Biol Sci. 2015 May 7;282(1806):2014313925854887
Cites: Neurology. 2001 Mar 27;56(6):781-311274316
Cites: Mol Psychiatry. 2015 Feb;20(1):140-725421402
Cites: J Neurosci. 2014 Aug 20;34(34):11199-21125143601
Cites: Neuroimage. 1995 Dec;2(4):244-529343609
Cites: Front Hum Neurosci. 2009 Nov 24;3:5120046827
Cites: J Clin Psychiatry. 1998;59 Suppl 20:22-33;quiz 34-579881538
Cites: Science. 2011 May 27;332(6033):1049-5321617068
Cites: Hum Brain Mapp. 2009 Sep;30(9):2936-5219172644
Cites: Nat Genet. 2012 Apr 15;44(5):552-6122504417
Cites: Neuroimage. 2007 Oct 15;38(1):95-11317761438
Cites: Neuroscientist. 2013 Feb;19(1):43-6122547530
Cites: PLoS One. 2012;7(8):e4242222900020
Cites: Genes Brain Behav. 2015 Apr;14(4):369-7625778778
Cites: Nat Neurosci. 2016 Mar;19(3):420-3126854805
Cites: Hum Brain Mapp. 2009 Oct;30(10):3299-30819288465
Cites: Transl Psychiatry. 2014 Mar 25;4:e37424667445
Cites: Stat Methods Med Res. 2003 Oct;12(5):419-4614599004
Cites: J Learn Disabil. 2014 Nov-Dec;47(6):532-4223456983
Cites: Vision Res. 2001;41(10-11):1409-2211322983
Cites: J Neurosci. 1997 Jun 1;17(11):4302-119151747
Cites: Hum Brain Mapp. 2013 Nov;34(11):3055-6522711189
Cites: Neuroimage. 2002 Jan;15(1):273-8911771995
Cites: Brain Res Bull. 2005 Nov 15;67(5):403-1216216687
Cites: Cell Stem Cell. 2014 Jul 3;15(1):79-9124996170
Cites: Neuropsychologia. 2016 Mar;83:48-6226119921
Cites: Ann N Y Acad Sci. 2008 Dec;1145:237-5919076401
Cites: Hum Brain Mapp. 2008 May;29(5):613-2517636558
Cites: Proc Natl Acad Sci U S A. 2010 Apr 27;107(17):7939-4420395549
Cites: Cortex. 2010 Nov-Dec;46(10):1284-9820650450
Cites: J Exp Child Psychol. 2009 Jul;103(3):309-2419398112
Cites: Neuroimage. 2000 Jun;11(6 Pt 1):805-2110860804
Cites: Nature. 2014 Jan 16;505(7483):361-624352232
Cites: Nat Rev Neurosci. 2015 Apr;16(4):234-4425783611
PubMed ID
28440815 View in PubMed
Less detail

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

https://arctichealth.org/en/permalink/ahliterature95191
Source
Eur J Med Genet. 2009 Sep-Oct;52(5):358-62
Publication Type
Article
Author
Bremer Anna
Schoumans Jacqueline
Nordenskjöld Magnus
Anderlid Britt-Marie
Giacobini Maibritt
Author Affiliation
Department of Molecular Medicine and Surgery, Karolinska University Hospital, Stockholm, Sweden.
Source
Eur J Med Genet. 2009 Sep-Oct;52(5):358-62
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics
Case-Control Studies
Child, Preschool
Chromosome Banding
Chromosome Breakage
Chromosome Deletion
Chromosomes, Human, Pair 6
Comparative Genomic Hybridization
DNA - genetics
Developmental Disabilities - genetics
Eye
Female
Heart Defects, Congenital - genetics
Humans
In Situ Hybridization, Fluorescence
Metaphase
Physical Chromosome Mapping
Reference Standards
Sweden
Abstract
Seven cases with an interstitial deletion of the short arm of chromosome 6 involving the 6p22 region have previously been reported. The clinical phenotype of these cases includes developmental delay, brain-, heart-, and kidney defects, eye abnormalities, short neck, craniofacial malformations, hypotonia, as well as clinodactyly or syndactyly. Here, we report a patient with a 7.1Mb interstitial deletion of chromosome band 6p22.3, detected by genome-wide screening array CGH. The patient is a 4-year-old girl with developmental delay and dysmorphic features including eye abnormalities, short neck, and a ventricular septum defect. The deleted region at 6p22.3 in our patient overlaps with six out of the seven previously reported cases with a 6p22-24 interstitial deletion. This enabled us to further narrow down the critical region for the 6p22 deletion phenotype to 2.2Mb. Twelve genes are mapped to the overlapping deleted region, among them the gene encoding the ataxin-1 protein, the ATXN1 gene. Mice with homozygous deletions in ATXN1 are phenotypically normal but show cognitive delay. Haploinsufficiency of ATXN1 may therefore contribute to the learning difficulties observed in the patients harboring a 6p22 deletion.
PubMed ID
19576304 View in PubMed
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A genome-wide search for alleles and haplotypes associated with autism and related pervasive developmental disorders on the Faroe Islands.

https://arctichealth.org/en/permalink/ahliterature83211
Source
Mol Psychiatry. 2006 Jan;11(1):37-46
Publication Type
Article
Date
Jan-2006
Author
Lauritsen M B
Als T D
Dahl H A
Flint T J
Wang A G
Vang M.
Kruse T A
Ewald H.
Mors O.
Author Affiliation
Centre for Basic Psychiatric Research, Psychiatric Hospital in Aarhus, Aarhus University Hospital, Shovagervej 2, DK-8240 Risskov, Denmark. mbl@dadlnet.dk
Source
Mol Psychiatry. 2006 Jan;11(1):37-46
Date
Jan-2006
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Alleles
Autistic Disorder - genetics
Child
Child, Preschool
Denmark
Developmental Disabilities - genetics
Female
Genetic Predisposition to Disease
Genome, Human
Haplotypes
Humans
Male
Microsatellite Repeats
Abstract
The involvement of genetic factors in the etiology of autism has been clearly established. We undertook a genome-wide search for regions containing susceptibility genes for autism in 12 subjects with childhood autism and related pervasive developmental disorders (PDDs) and 44 controls from the relatively isolated population of the Faroe Islands. In total, 601 microsatellite markers distributed throughout the human genome with an average distance of 5.80 cM were genotyped, including 502 markers in the initial scan. The Faroese population structure and genetic relatedness of cases and controls were also evaluated. Based on a combined approach, including an assumption-free test as implemented in CLUMP, Fisher's exact test for specific alleles and haplotypes, and IBD(0) probability calculations, we found association between autism and microsatellite markers in regions on 2q, 3p, 6q, 15q, 16p, and 18q. The most significant finding was on 3p25.3 (P(T1)=0.00003 and P(T4)=0.00007), which was also supported by other genetic studies. Furthermore, no evidence of population substructure was found, and a higher degree of relatedness among cases could not be detected, decreasing the risk of inflated P-values. Our data suggest that markers in these regions are in linkage disequilibrium with genes involved in the etiology of autism, and we hypothesize susceptibility genes for autism and related PDDs to be localized within these regions.
PubMed ID
16205737 View in PubMed
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Is it possible to diagnose Rett syndrome before classical symptoms become obvious? Review of 24 Danish cases born between 2003 and 2012.

https://arctichealth.org/en/permalink/ahliterature273212
Source
Eur J Paediatr Neurol. 2015 Nov;19(6):679-87
Publication Type
Article
Date
Nov-2015
Author
Anne-Marie Bisgaard
Bitten Schönewolf-Greulich
Kirstine Ravn
Gitte Rønde
Source
Eur J Paediatr Neurol. 2015 Nov;19(6):679-87
Date
Nov-2015
Language
English
Publication Type
Article
Keywords
Adolescent
Autistic Disorder - genetics
Child
Child, Preschool
Denmark
Developmental Disabilities - genetics
Early Diagnosis
Female
Humans
Methyl-CpG-Binding Protein 2 - genetics
Mutation
Phenotype
Rett Syndrome - complications - diagnosis - genetics
Abstract
Rett syndrome (RTT) is a neurodevelopmental disorder that affects mainly females; it results in multiple disabilities and carries a risk of medical comorbidities. Early diagnosis is important to help establish the best treatment opportunities and preventive care in order to slow down the progression of symptoms. We wanted to test our hypothesis that it is possible to diagnose RTT before the classical symptoms become obvious.
We analysed development and symptoms before and at the time of the RTT diagnosis, as well as the symptoms that triggered MECP2 mutation analysis, in a cohort of girls with RTT born in Denmark between 2003 and 2012.
Twenty-four girls were included, and 87.5% of these girls were diagnosed when the classical RTT symptoms were recognized. However, parents were concerned about their daughters between 3 and 58 months prior to the RTT diagnosis, and they felt that the professionals did not share their concern in the beginning. When reviewing medical files and questionnaires, we noted that the majority of girls did have combinations of concerning symptoms such as developmental delay and a collection of subtle signs such as autistic traits, placidity, floppiness with suspicion of muscular or mitochondrial diseases, hair pulling, teeth grinding, development of incontinence and problems with initiating movements.
We conclude that many individuals with MECP2 mutation exhibit characteristics that should raise suspicion for RTT, prior to evolution of the core clinical criteria. As RTT is a rare disease, it is of importance to constantly educate clinicians for heightened awareness of RTT.
PubMed ID
26228846 View in PubMed
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Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

https://arctichealth.org/en/permalink/ahliterature162717
Source
Am J Med Genet A. 2007 Aug 1;143A(15):1715-25
Publication Type
Article
Date
Aug-1-2007
Author
Kym M Boycott
Jillian S Parboosingh
James N Scott
D Ross McLeod
Cheryl R Greenberg
T Mary Fujiwara
Jean K Mah
Julian Midgley
Andrew Wade
Francois P Bernier
Bernard N Chodirker
Martin Bunge
A Micheil Innes
Author Affiliation
Department of Medical Genetics, Alberta Children's Hospital and University of Calgary, Calgary, Alberta, Canada. kboycott@cheo.on.ca
Source
Am J Med Genet A. 2007 Aug 1;143A(15):1715-25
Date
Aug-1-2007
Language
English
Publication Type
Article
Keywords
Adult
Child
Child, Preschool
Chromosome Aberrations
Chromosome Disorders - genetics
Developmental Disabilities - genetics
Diagnosis, Differential
Ethnic Groups - statistics & numerical data
Female
Humans
Infant
Male
Manitoba
Meckel Diverticulum - classification - epidemiology - genetics
Spinocerebellar Ataxias - genetics
Syndrome
Abstract
Meckel syndrome (MKS) is a rare lethal autosomal recessive disorder characterized by the presence of occipital encephalocele, cystic kidneys, fibrotic changes of the liver and polydactyly. Joubert syndrome (JS)-related disorders (JSRDs) or cerebello-oculo-renal syndromes (CORS) are a group of recessively inherited conditions characterized by a molar tooth sign (MTS) on cranial MRI, a set of core clinical features (developmental delay/mental retardation, hypotonia, ataxia, episodic breathing abnormalities, abnormal eye movements) and variable involvement of other systems including renal, ocular, central nervous system, craniofacial, hepatic, and skeletal. A significant clinical overlap between MKS and JSRD/CORS has been recognized in the literature. We describe a group of 10 Hutterite patients, of which 7 had been previously diagnosed with MKS, with a JSRD. Clinical features include variable early mortality, cognitive handicap, a characteristic dysmorphic facial appearance, hypotonia, ataxia, abnormal breathing pattern, nystagmus, and MTS on MRI. Additional features include occipital encephalocele, posterior fossa fluid collections resembling Dandy-Walker malformation, hydrocephalus, coloboma, and renal disease. This JSRD is a recognizable dysmorphic syndrome characterized by hypertelorism, deep-set eyes, down-slanting palpebral fissures, ptosis, arched eyebrows with medial sparseness, square nasal tip, short philtrum with tented upper lip, open mouth with down-turned corners, and posteriorly rotated low-set ears. Renal disease is present in 70% of patients and is characterized by cystic kidneys, abnormalities in renal function and hypertension. Homozygous deletions of NPHP1 and the known loci for JS/JSRD and MKS were excluded by identity-by-descent mapping studies suggesting that this condition in the Hutterites represents yet another locus for a JSRD.
PubMed ID
17603801 View in PubMed
Less detail

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

https://arctichealth.org/en/permalink/ahliterature125665
Source
Clin Genet. 2013 Feb;83(2):125-34
Publication Type
Article
Date
Feb-2013
Author
E. Husu
H D Hove
S. Farholt
M. Bille
L. Tranebjærg
I. Vogel
S. Kreiborg
Author Affiliation
Department of Clinical Genetics, Unit for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. edithhusu@gmail.com
Source
Clin Genet. 2013 Feb;83(2):125-34
Date
Feb-2013
Language
English
Publication Type
Article
Keywords
Adolescent
Bone Diseases, Developmental - genetics - pathology
CHARGE Syndrome - genetics - pathology
Child
Child, Preschool
Coloboma - genetics - pathology
DNA Helicases - genetics
DNA-Binding Proteins - genetics
Denmark - epidemiology
Developmental Disabilities - genetics - pathology
Ear, External - abnormalities - pathology
Facial Asymmetry - genetics - pathology
Female
Genetic Association Studies
Hearing Loss, Sensorineural - genetics - pathology
Heart Defects, Congenital - genetics - pathology
Humans
Infant
Male
Mouth Abnormalities - genetics - pathology
Mutation
Retrospective Studies
Urogenital Abnormalities - genetics - pathology
Abstract
CHARGE (coloboma of the eye, heart defects, choanal atresia, retarded growth and development, genital hypoplasia and ear anomalies and/or hearing loss) syndrome is a rare genetic, multiple-malformation syndrome. About 80% of patients with a clinical diagnose, have a mutation or a deletion in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7). Genotype-phenotype correlation is only partly known. In this nationwide study, phenotypic characteristics of 18 Danish CHD7 mutation positive CHARGE individuals (N = 18) are presented. We studied patient records, clinical photographs, computed tomography, and magnetic resonance imaging (MRI). Information was not available for all traits in all subjects. Therefore, the results are presented as fractions. The following prevalence of cardinal symptoms were found: coloboma, 16/17; heart defects, 14/18; choanal atresia, 7/17; retarded growth and development, 11/13; genital abnormalities, 5/18; ear anomalies, 15/17 and sensorineural hearing loss, 14/15. Vestibular dysfunction (10/13) and swallowing problems (12/15) were other frequent cranial nerve dysfunctions. Three-dimensional reconstructions of MRI scans showed temporal bone abnormalities in >85%. CHARGE syndrome present a broad phenotypic spectrum, although some clinical features are more frequently occurring than others. Here, we suggest that genetic testing for CHD7 mutation should be considered in neonates with a specific combination of several clinical symptoms.
PubMed ID
22462537 View in PubMed
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Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.

https://arctichealth.org/en/permalink/ahliterature170293
Source
Am J Med Genet A. 2006 Apr 15;140(8):892-4
Publication Type
Article
Date
Apr-15-2006
Author
Giovanni Battista Ferrero
Elga Belligni
Lorena Sorasio
Angelo Giovanni Delmonaco
Roberto Oggero
Francesca Faravelli
Mauro Pierluigi
Margherita Silengo
Author Affiliation
Dipartimento di Scienze Pediatriche, Universita' di Torino, Torino, Italy.
Source
Am J Med Genet A. 2006 Apr 15;140(8):892-4
Date
Apr-15-2006
Language
English
Publication Type
Article
Keywords
Adult
Agenesis of Corpus Callosum
Child, Preschool
Chromosomes, Human, Pair 16 - genetics
Chromosomes, Human, Pair 9 - genetics
Corpus Callosum - radiography
Developmental Disabilities - genetics
Female
Hernia, Diaphragmatic - genetics - radiography
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Male
Phenotype
Syndrome
Translocation, Genetic
Abstract
We describe a 3-year-old boy with complete agenesis of corpus callosum, developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of Donnai-Barrow syndrome. Subtelomeric FISH analysis revealed a paternally-derived t(9;16) (q34.3;q24.3) translocation with partial 9q monosomy and partial 16q trisomy. As some facial features resemble the 9q emerging phenotype, we suggest the hypothesis that some patients with Donnai-Barrow syndrome might be abscribed to 9q terminal deletion.
PubMed ID
16532464 View in PubMed
Less detail

The Quebec Newborn Twin Study into adolescence: 15 years later.

https://arctichealth.org/en/permalink/ahliterature118505
Source
Twin Res Hum Genet. 2013 Feb;16(1):64-9
Publication Type
Article
Date
Feb-2013
Author
Michel Boivin
Mara Brendgen
Ginette Dionne
Lise Dubois
Daniel Pérusse
Philippe Robaey
Richard E Tremblay
Frank Vitaro
Author Affiliation
School of Psychology, Université Laval, Québec, Canada. michel.boivin@psy.ulaval.ca
Source
Twin Res Hum Genet. 2013 Feb;16(1):64-9
Date
Feb-2013
Language
English
Publication Type
Article
Keywords
Adolescent
Child
Child, Preschool
Cognition Disorders - genetics
Developmental Disabilities - genetics
Diseases in Twins - genetics
Follow-Up Studies
Gene-Environment Interaction
Humans
Infant
Infant, Newborn
Mental Disorders - genetics
Quebec
Social Environment
Abstract
The Quebec Newborn Twin Study (QNTS) is an ongoing prospective longitudinal follow-up of a birth cohort of twins born between 1995 and 1998 in the greater Montreal area, Québec, Canada. The goal of QNTS is to document individual differences in the cognitive, behavioral, and social-emotional aspects of developmental health across childhood, their early bio-social determinants, as well as their putative role in later social-emotional adjustment, school and health outcomes. A total of 662 families of twins were initially assessed when the twins were aged 6 months. These twins and their family were then followed regularly. QNTS has 14 waves of data collected or planned, including 5 in preschool. Over the past 15 years, a broad range of physiological, cognitive, behavioral, school, and health phenotypes were documented longitudinally through multi-informant and multi-method measurements. QNTS also entails extended and detailed multi-level assessments of proximal (e.g., parenting behaviors, peer relationships) and distal (e.g., family income) features of the child's environment. This detailed longitudinal information makes QNTS uniquely suited for the study of the role of the early years and gene-environment transactions in development.
PubMed ID
23200437 View in PubMed
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