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Absence of linkage of phonological coding dyslexia to chromosome 6p23-p21.3 in a large family data set.

https://arctichealth.org/en/permalink/ahliterature204108
Source
Am J Hum Genet. 1998 Nov;63(5):1448-56
Publication Type
Article
Date
Nov-1998
Author
L L Field
B J Kaplan
Author Affiliation
Department of Medical Genetics, Faculty of Medicine, Alberta Children's Hospital, University of Calgary, Calgry, Alberta, Canada. field@ucalgary.ca
Source
Am J Hum Genet. 1998 Nov;63(5):1448-56
Date
Nov-1998
Language
English
Publication Type
Article
Keywords
African Continental Ancestry Group - genetics
Alberta
Alleles
Auditory Perception
Child
Chromosome Mapping
Chromosomes, Human, Pair 6
Dyslexia - genetics - physiopathology
Europe - ethnology
European Continental Ancestry Group - genetics
Gene Frequency
Genetic Linkage
Genetic markers
Genotype
Humans
Lod Score
Nuclear Family
Abstract
Previous studies have suggested that a locus predisposing to specific reading disability (dyslexia) resides on chromosome 6p23-p21.3. We investigated 79 families having at least two siblings affected with phonological coding dyslexia, the most common form of reading disability (617 people genotyped, 294 affected), and we tested for linkage with the genetic markers reported to be linked to dyslexia in those studies. No evidence for linkage was found by LOD score analysis or affected-sib-pair methods. However, using the affected-pedigree-member (APM) method, we detected significant evidence for linkage and/or association with some markers when we used published allele frequencies with weighting of rarer alleles. APM results were not significant when we used marker allele frequencies estimated from parents. Furthermore, results were not significant with the more robust SIMIBD method using either published or parental marker frequencies. Finally, family-based association analysis using the AFBAC program showed no evidence for association with any marker. We conclude that the APM method should be used only with extreme caution, because it appears to have generated false-positive results. In summary, using a large data set with high power to detect linkage, we were unable to find evidence for linkage or association between phonological coding dyslexia and chromosome 6p markers.
Notes
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Erratum In: Am J Hum Genet 1999 Jan;64(1):334
PubMed ID
9792873 View in PubMed
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A dominant gene for developmental dyslexia on chromosome 3.

https://arctichealth.org/en/permalink/ahliterature193082
Source
J Med Genet. 2001 Oct;38(10):658-64
Publication Type
Article
Date
Oct-2001
Author
J. Nopola-Hemmi
B. Myllyluoma
T. Haltia
M. Taipale
V. Ollikainen
T. Ahonen
A. Voutilainen
J. Kere
E. Widén
Author Affiliation
Department of Paediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Finland.
Source
J Med Genet. 2001 Oct;38(10):658-64
Date
Oct-2001
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Analysis of Variance
Child
Chromosome Mapping
Chromosomes, Human, Pair 3 - genetics
Dyslexia - genetics - physiopathology
Female
Finland
Genes, Dominant - genetics
Haplotypes - genetics
Humans
Lod Score
Male
Memory - physiology
Middle Aged
Pedigree
Psychological Tests
Radiation Hybrid Mapping
Reading
Receptors, Dopamine D2 - genetics
Receptors, Dopamine D3
Receptors, Serotonin - genetics
Abstract
Developmental dyslexia is a neurofunctional disorder characterised by an unexpected difficulty in learning to read and write despite adequate intelligence, motivation, and education. Previous studies have suggested mostly quantitative susceptibility loci for dyslexia on chromosomes 1, 2, 6, and 15, but no genes have been identified yet. We studied a large pedigree, ascertained from 140 families considered, segregating pronounced dyslexia in an autosomal dominant fashion. Affected status and the subtype of dyslexia were determined by neuropsychological tests. A genome scan with 320 markers showed a novel dominant locus linked to dyslexia in the pericentromeric region of chromosome 3 with a multipoint lod score of 3.84. Nineteen out of 21 affected pedigree members shared this region identical by descent (corrected p
Notes
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PubMed ID
11584043 View in PubMed
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Familial dyslexia: neurocognitive and genetic correlation in a large Finnish family.

https://arctichealth.org/en/permalink/ahliterature188582
Source
Dev Med Child Neurol. 2002 Sep;44(9):580-6
Publication Type
Article
Date
Sep-2002
Author
Jaana Nopola-Hemmi
Birgitta Myllyluoma
Arja Voutilainen
Seija Leinonen
Juha Kere
Timo Ahonen
Author Affiliation
Department of Paediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Finland. jaana.nopola-hemmi@hus.fi
Source
Dev Med Child Neurol. 2002 Sep;44(9):580-6
Date
Sep-2002
Language
English
Publication Type
Article
Keywords
Adult
Child
Cognition Disorders - genetics
Dyslexia - genetics - physiopathology
Female
Finland
Humans
Language Disorders - genetics
Male
Memory
Neuropsychological Tests
Pedigree
Abstract
Neuropsychological findings of individuals with dyslexia (n=24) from a large, three-generation Finnish family are presented. We have previously performed whole genome linkage scanning in this family and found that dyslexia in this kindred segregates with a single locus in the pericentromeric area of chromosome 3. Those included in the analyses were carefully evaluated for general cognitive ability, reading and spelling skills, and reading-related neurocognitive skills. The neurocognitive type of dyslexia segregating in this family consisted of deficits in phonological awareness, verbal short-term memory, and rapid naming. Severe dyslexia also seemed to be connected with a general language difficulty and was most common in the eldest generation.
PubMed ID
12227612 View in PubMed
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