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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
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PubMed ID
28440815 View in PubMed
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[Andermann syndrome in an Algerian family: suggestion of phenotype and genetic homogeneity].

https://arctichealth.org/en/permalink/ahliterature191119
Source
Rev Neurol (Paris). 2001 Oct;157(10):1279-81
Publication Type
Article
Date
Oct-2001
Author
G. Lesca
I. Cournu-Rebeix
A. Azoulay-Cayla
O. Lyon-Caen
A. Barois
O. Dulac
B. Fontaine
Author Affiliation
Fédération de Neurologie, Hôpital de la Salpétrière, 47 Boulevard de l'Hôpital, 75013 Paris, France.
Source
Rev Neurol (Paris). 2001 Oct;157(10):1279-81
Date
Oct-2001
Language
French
Publication Type
Article
Keywords
Adolescent
Adult
Agenesis of Corpus Callosum
Algeria
Child
Child, Preschool
Chromosome Aberrations
Chromosomes, Human, Pair 15
Consanguinity
Ethnic Groups - genetics
Follow-Up Studies
Genes, Recessive - genetics
Hereditary Sensory and Motor Neuropathy - diagnosis - genetics
Humans
Infant
Infant, Newborn
Intellectual Disability - genetics
Male
Pedigree
Phenotype
Quebec
Syndrome
Abstract
Andermann syndrome or Agenesis of the Corpus Callosum with Polyneuropathy (MIM 218000) is an autosomal recessive disease almost exclusively found in Québec. Only few cases have been reported in other populations. The locus for Andermann syndrome was assigned to chromosome 15q13-q15 in French Canadian families. We performed a haplotype analysis with two markers of this chromosomal region in an Algerian consanguineous family with two affected sibs. The children were homozygous for both markers, suggesting genetic homogeneity in Andermann syndrome.
Notes
Comment In: Rev Neurol (Paris). 2003 Jan;159(1):8712618661
PubMed ID
11885521 View in PubMed
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Aspartylglucosaminuria in the United States.

https://arctichealth.org/en/permalink/ahliterature241836
Source
Clin Genet. 1983 Jun;23(6):427-35
Publication Type
Article
Date
Jun-1983
Author
S. Hreidarsson
G H Thomas
D L Valle
R E Stevenson
H. Taylor
J. McCarty
S B Coker
W R Green
Source
Clin Genet. 1983 Jun;23(6):427-35
Date
Jun-1983
Language
English
Publication Type
Article
Keywords
Adolescent
Amidohydrolases - deficiency
Aspartylglucosaminuria
Biopsy
Child
Conjunctiva - pathology
Fibroblasts - enzymology
Finland
Genes, Recessive
Humans
Intellectual Disability - genetics
Male
Metabolism, Inborn Errors - epidemiology - genetics
United States
Abstract
Aspartylglucosaminuria (AGU) was diagnosed in two unrelated males with progressive mental retardation, coarse facies and skeletal abnormalities. Until now, this disorder has been described in predominantly Finnish populations with only one previous case reported in the U.S. We conclude that AGU may be more common in non-Finnish populations than the number of reported cases would indicate and should be included in the differential diagnosis in patients with suspected lysosomal storage disorders regardless of their geographical or ethnic backgrounds.
PubMed ID
6883788 View in PubMed
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Association of an X-chromosome dodecamer insertional variant allele with mental retardation.

https://arctichealth.org/en/permalink/ahliterature204843
Source
Mol Psychiatry. 1998 Jul;3(4):303-9
Publication Type
Article
Date
Jul-1998
Author
R A Philibert
B H King
S. Winfield
E H Cook
Y H Lee
B. Stubblefield
P. Damschroder-Williams
C. Dea
A. Palotie
C. Tengstrom
B M Martin
E I Ginns
Author Affiliation
Clinical Neuroscience Branch, National Institute of Mental Health, Bethesda, MD 20892, USA. philiber@irp.nimh.nih.gov
Source
Mol Psychiatry. 1998 Jul;3(4):303-9
Date
Jul-1998
Language
English
Publication Type
Article
Keywords
Alleles
Amino Acid Sequence
Animals
Base Sequence
California - epidemiology
Chromosome Mapping
Conserved Sequence
Cosmids
DNA Transposable Elements
Europe - epidemiology
Exons
Female
Finland - epidemiology
Fragile X Syndrome - genetics
Gene Library
Genetic Variation
Humans
Hypothyroidism - epidemiology - genetics
In Situ Hybridization, Fluorescence
Intellectual Disability - genetics
Male
Mice
Molecular Sequence Data
Polymorphism, Genetic
Prevalence
Sequence Alignment
Sequence Homology, Amino Acid
Trinucleotide Repeats
X Chromosome
Abstract
Mental retardation is a prominent feature of many neurodevelopmental syndromes. In an attempt to identify genetic components of these illnesses, we isolated and sequenced a large number of human genomic cosmid inserts containing large trinucleotide repeats. One of these cosmids, Cos-4, maps to the X-chromosome and contains the sequence of a 7.3-kb mRNA. Initial polymorphism analysis across a region of repetitive DNA in this gene revealed a rare 12-bp exonic variation (
Notes
Erratum In: Mol Psychiatry 1999 Mar;4(2):197
PubMed ID
9702738 View in PubMed
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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

https://arctichealth.org/en/permalink/ahliterature282304
Source
Am J Hum Genet. 2016 Sep 01;99(3):683-94
Publication Type
Article
Date
Sep-01-2016
Author
Mikko Muona
Ryosuke Ishimura
Anni Laari
Yoshinobu Ichimura
Tarja Linnankivi
Riikka Keski-Filppula
Riitta Herva
Heikki Rantala
Anders Paetau
Minna Pöyhönen
Miki Obata
Takefumi Uemura
Thomas Karhu
Norihisa Bizen
Hirohide Takebayashi
Shane McKee
Michael J Parker
Nadia Akawi
Jeremy McRae
Matthew E Hurles
Outi Kuismin
Mitja I Kurki
Anna-Kaisa Anttonen
Keiji Tanaka
Aarno Palotie
Satoshi Waguri
Anna-Elina Lehesjoki
Masaaki Komatsu
Source
Am J Hum Genet. 2016 Sep 01;99(3):683-94
Date
Sep-01-2016
Language
English
Publication Type
Article
Keywords
Alleles
Animals
Animals, Newborn
Apoptosis
Brain Diseases - genetics - metabolism - pathology
Central Nervous System - metabolism - pathology
Cohort Studies
Epilepsy - genetics
Exome - genetics
Exons - genetics
Fibroblasts - metabolism - pathology
Finland
Gene Frequency
Heterozygote
Humans
Infant
Intellectual Disability - genetics
Mice
Mice, Knockout
Microcephaly - genetics - pathology
Mutation - genetics
Neurons - metabolism - pathology
Proteins - genetics - metabolism
Spasms, Infantile - genetics - metabolism
Ubiquitin - metabolism
Ubiquitin-Activating Enzymes - genetics
Abstract
The ubiquitin fold modifier 1 (UFM1) cascade is a recently identified evolutionarily conserved ubiquitin-like modification system whose function and link to human disease have remained largely uncharacterized. By using exome sequencing in Finnish individuals with severe epileptic syndromes, we identified pathogenic compound heterozygous variants in UBA5, encoding an activating enzyme for UFM1, in two unrelated families. Two additional individuals with biallelic UBA5 variants were identified from the UK-based Deciphering Developmental Disorders study and one from the Northern Finland Intellectual Disability cohort. The affected individuals (n = 9) presented in early infancy with severe irritability, followed by dystonia and stagnation of development. Furthermore, the majority of individuals display postnatal microcephaly and epilepsy and develop spasticity. The affected individuals were compound heterozygous for a missense substitution, c.1111G>A (p.Ala371Thr; allele frequency of 0.28% in Europeans), and a nonsense variant or c.164G>A that encodes an amino acid substitution p.Arg55His, but also affects splicing by facilitating exon 2 skipping, thus also being in effect a loss-of-function allele. Using an in vitro thioester formation assay and cellular analyses, we show that the p.Ala371Thr variant is hypomorphic with attenuated ability to transfer the activated UFM1 to UFC1. Finally, we show that the CNS-specific knockout of Ufm1 in mice causes neonatal death accompanied by microcephaly and apoptosis in specific neurons, further suggesting that the UFM1 system is essential for CNS development and function. Taken together, our data imply that the combination of a hypomorphic p.Ala371Thr variant in trans with a loss-of-function allele in UBA5 underlies a severe infantile-onset encephalopathy.
Notes
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PubMed ID
27545674 View in PubMed
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Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

https://arctichealth.org/en/permalink/ahliterature204762
Source
Am J Med Genet. 1998 Aug 6;78(5):461-7
Publication Type
Article
Date
Aug-6-1998
Author
T L Young
M O Woods
P S Parfrey
J S Green
E. O'Leary
D. Hefferton
W S Davidson
Author Affiliation
Faculty of Medicine, Memorial University of Newfoundland, St. John's, Canada. tlyoung@morgan.ucs.mun.ca
Source
Am J Med Genet. 1998 Aug 6;78(5):461-7
Date
Aug-6-1998
Language
English
Publication Type
Article
Keywords
Adult
Blindness - congenital
Chromosome Mapping
Chromosomes, Human, Pair 3
Female
Fingers - abnormalities
Genetic Linkage
Haplotypes
Humans
Intellectual Disability - genetics
Intelligence Tests
Kidney - abnormalities
Male
Middle Aged
Newfoundland and Labrador
Obesity - genetics
Pedigree
Phenotype
Polydactyly - genetics
Retinitis Pigmentosa - genetics
Syndrome
Toes - abnormalities
Abstract
There are at least five distinct Bardet-Biedl syndrome (BBS) loci, four of which have been mapped: 11q (BBS1), 16q (BBS2), 3p (BBS3), and 15q (BBS4). A comparative study of the three Arab-Bedouin kindreds used to map the BBS2, BBS3, and BBS4 loci suggests that the variability in the number and severity of clinical manifestations, particularly the pattern of polydactyly, reflects chromosome-specific subtypes of BBS [Carmi et al., 1995a; Am J Med Genet 59:199-203]. We describe a Newfoundland kindred of northern European descent and confirm the initial finding of a BBS locus on chromosome 3. However, the "BBS3 phenotype," which includes polydactyly of all four limbs and a progression to morbid obesity, was not observed. Rather, four of the five BBS patients in this family had polydactyly restricted to their feet. The obesity in these patients was reversible with caloric restriction and/or exercise. Mental retardation has been considered a major symptom of BBS. However, formal IQ testing shows that these patients are of average intelligence. Haplotype analysis reduces the BBS3 critical region to a 6-cM interval between D3S1595-D3S1753.
PubMed ID
9714014 View in PubMed
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A chromosome survey of 1062 mentally retarded patients. Evaluation of a long-term study at the Rinnekoti institution, Finland.

https://arctichealth.org/en/permalink/ahliterature246473
Source
Hereditas. 1980;92(2):223-8
Publication Type
Article
Date
1980

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.

https://arctichealth.org/en/permalink/ahliterature263843
Source
Eur J Med Genet. 2014 Oct;57(10):543-51
Publication Type
Article
Date
Oct-2014
Author
Eevi Kaasinen
Elisa Rahikkala
Peppi Koivunen
Sirpa Miettinen
Mirjam M C Wamelink
Mervi Aavikko
Kimmo Palin
Johanna Myllyharju
Jukka S Moilanen
Leila Pajunen
Auli Karhu
Lauri A Aaltonen
Source
Eur J Med Genet. 2014 Oct;57(10):543-51
Date
Oct-2014
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Chromosomes, Human, Pair 3
DNA Mutational Analysis
Eye Abnormalities - genetics
Female
Finland
Genes, Recessive
Genetic Heterogeneity
Genotype
Humans
Intellectual Disability - genetics
Male
Middle Aged
Muscle Hypotonia - genetics
Pedigree
Phenotype
Prolyl Hydroxylases - genetics
Sequence Analysis, DNA
Syndrome
Transketolase - deficiency - genetics
Ubiquitin Thiolesterase - genetics
Young Adult
Abstract
We identified six patients presenting with a strikingly similar clinical phenotype of profound syndromic intellectual disability of unknown etiology. All patients lived in the same village. Extensive genealogical work revealed that the healthy parents of the patients were all distantly related to a common ancestor from the 17th century, suggesting autosomal recessive inheritance. In addition to intellectual disability, the clinical features included hypotonia, strabismus, difficulty to fix the eyes to an object, planovalgus in the feet, mild contractures in elbow joints, interphalangeal joint hypermobility and coarse facial features that develop gradually during childhood. The clinical phenotype did not fit any known syndrome. Genome-wide SNP genotyping of the patients and genetic mapping revealed the longest shared homozygosity at 3p22.1-3p21.1 encompassing 11.5 Mb, with no other credible candidate loci emerging. Single point parametric linkage analysis showed logarithm of the odds score of 11 for the homozygous region, thus identifying a novel intellectual disability predisposition locus. Whole-genome sequencing of one affected individual pinpointed three genes with potentially protein damaging homozygous sequence changes within the predisposition locus: transketolase (TKT), prolyl 4-hydroxylase transmembrane (P4HTM), and ubiquitin specific peptidase 4 (USP4). The changes were found in heterozygous form with 0.3-0.7% allele frequencies in 402 whole-genome sequenced controls from the north-east of Finland. No homozygotes were found in this nor additional control data sets. Our study facilitates clinical and molecular diagnosis of patients with this novel autosomal recessive intellectual disability syndrome. However, further studies are needed to unambiguously identify the underlying genetic defect.
PubMed ID
25078763 View in PubMed
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49 records – page 1 of 5.