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Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.

https://arctichealth.org/en/permalink/ahliterature173849
Source
Can J Neurol Sci. 2005 May;32(2):261-3
Publication Type
Article
Date
May-2005
Author
Annie Dionne
Denis Brunet
Alexander McCampbell
Nicolas Dupré
Author Affiliation
Départment des Sciences Neurologiques, CHAUQ-Hôpital Enfant-Jésus, McGill University, QC, Canada.
Source
Can J Neurol Sci. 2005 May;32(2):261-3
Date
May-2005
Language
English
Publication Type
Article
Keywords
ATP-Binding Cassette Transporters - genetics
Adrenoleukodystrophy - genetics - metabolism - physiopathology
Amino Acid Sequence - genetics
Amino Acid Substitution - genetics
Chromosomes, Human, X - genetics
DNA Mutational Analysis
Diagnosis, Differential
Exons - genetics
Family Health
Female
Genetic Testing
Humans
Middle Aged
Mutation, Missense - genetics
Pedigree
Phenotype
Quebec - ethnology
Sex Factors
Abstract
X-linked adrenoleukodystrophy is a peroxisomial disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy is the second most frequent phenotype (25-46%) of this disease and classically presents in adulthood with spastic paraparesis. Female heterozygotes can be symptomatic, but they are frequently misdiagnosed as having multiple sclerosis.
We report a novel missense mutation in the ABCD1 gene in a 47-year-old French-Canadian female with spastic paraparesis and no confirmed family history of X-linked adrenoleukodystrophy. The mutation is located on exon 1 and causes the amino acid substitution of a valine for an alanine in a region of the protein highly conserved between mouse and man.
Adrenomyeloneuropathy must be considered in the differential diagnosis of spastic paraparesis in men or women. This is an initial report of an ABCD1 gene mutation in the French-Canadian population, which should lead to the recognition of other cases in the future.
PubMed ID
16018167 View in PubMed
Less detail
Source
Clin Nephrol. 2005 Aug;64(2):85-90
Publication Type
Article
Date
Aug-2005
Author
Persson U.
Hertz J M
Wieslander J.
Segelmark M.
Author Affiliation
Department of Nephrology, Lund University Hospital, Sweden. ulf.m.persson@vgregion.se
Source
Clin Nephrol. 2005 Aug;64(2):85-90
Date
Aug-2005
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Chromosomes, Human, X
DNA Mutational Analysis
Female
Genotype
Humans
Linkage (Genetics)
Male
Middle Aged
Nephritis, Hereditary - epidemiology - genetics
Polymerase Chain Reaction
Sweden - epidemiology
Syndrome
Abstract
AIM: The aim of the present investigation is to study the epidemiology of Alport syndrome in southern Sweden, to search for mutations in the COL4A5 gene and to estimate the mutation frequency. PATIENTS AND METHODS: Patients with suspected Alport syndrome were identified in an area with a population of 1.45 million. Clinical criteria were used to establish the diagnosis and samples for mutation analysis were collected. Mutation analyses were performed with Single-Stranded Conformation Polymorphism analysis (SSCP) of PCR-amplified genomic DNA. RESULTS: Altogether 25 families with hereditary nephritis were identified. Alport syndrome with X-linked transmission was evident in 14 families, with juvenile ( or = 31 years) in four families. CONCLUSION: The frequency of males with X-linked disease was calculated to one in 17,000 male births (95% confidence interval (CI) 1/10,500-1/28,600), and the prevalence to one in 40,000. A total of seven females with ESRF were identified, with a median age at ESRF of 45 years. The male to female ratio of cases with ESRF was 4.9 to 1. The risk of developing ESRF among females was from the expected incidence roughly estimated to 12%. Patients with X-linked disease constituted 1.8% of patients with ESRF in the examined area. A mutation was identified positive in 10 of 14 families with X-linked disease, but never in families not fulfilling the clinical criteria for Alport syndrome. In families with juvenile phenotype and positive mutation analysis, the mutation frequency was calculated to between 1/78,000 and 1/198,000 (95% CI 1/42,000-1/177,000) if the effective fertility was estimated to be between 0 and 0.2.
PubMed ID
16114783 View in PubMed
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Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12.

https://arctichealth.org/en/permalink/ahliterature78545
Source
Eur J Hum Genet. 2007 May;15(5):543-7
Publication Type
Article
Date
May-2007
Author
Blinkenberg Ellen O
Brendehaug Atle
Sandvik Arne K
Vatne Oystein
Hennekam Raoul C M
Houge Gunnar
Author Affiliation
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Source
Eur J Hum Genet. 2007 May;15(5):543-7
Date
May-2007
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics - pathology
Centromere - genetics
Chromosome Mapping
Chromosomes, Human, Pair 11 - genetics
Chromosomes, Human, X - genetics
Esophageal Neoplasms - genetics
Female
Focal Dermal Hypoplasia - genetics - pathology
Genes, Dominant
Genetic markers
Hemangioma - genetics - pathology
Humans
Linkage (Genetics)
Male
Norway
Papilloma - genetics
Pedigree
Abstract
We report on a four-generation family with localized subepidermal telangiectasias following Blaschko's lines (angioma serpiginosum). The vascular streaks are present at birth and progress slowly thereafter. In several family members papillomatosis of the entire oesophagus was found to be part of the condition. Mild nail and hair dystrophy added to the resemblance of Goltz-Gorlin syndrome (focal dermal hypoplasia), suggesting that the present condition could be a mild variant. All affected family members are females, there is no increased miscarriage rate, and X-inactivation in affected females is highly skewed, compatible with X-linked dominant inheritance with very early in utero lethality in males. In the family, 11 informative meioses were available to study the segregation of X-chromosome markers. Significant linkage (LOD score 3.31) was found to a region flanked by markers DXS8026 and DXS106 (44-67 Mb from Xpter) that includes the centromere.
PubMed ID
17342156 View in PubMed
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Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients.

https://arctichealth.org/en/permalink/ahliterature143275
Source
Am J Med Genet A. 2010 Jun;152A(6):1398-410
Publication Type
Article
Date
Jun-2010
Author
Linda Siggberg
Sirpa Ala-Mello
Elisa Jaakkola
Esa Kuusinen
Robert Schuit
Jürgen Kohlhase
Detlef Böhm
Jaakko Ignatius
Sakari Knuutila
Author Affiliation
Department of Pathology, Haartman Institute, University of Helsinki, Helsinki, Finland. linda.siggberg@helsinki.fi
Source
Am J Med Genet A. 2010 Jun;152A(6):1398-410
Date
Jun-2010
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Child
Child, Preschool
Chromosomes, Human, X - genetics
Comparative Genomic Hybridization - methods
Female
Finland
Gene Duplication
Humans
Infant
Intellectual Disability - diagnosis - genetics
Male
Oligonucleotide Array Sequence Analysis - methods
Sequence Deletion
Abstract
We report on the results of an array comparative genomic hybridization (array CGH) study of 150 karyotypically normal Finnish patients with idiopathic mental retardation and/or dysmorphic features and/or malformations. Using high-resolution microarray analysis, we sought to identify clinically relevant microdeletions and microduplications in these patients. The results were confirmed using other methods and compared with findings reported in recent publications and internet databases. Small aberrations of potential clinical significance were found in 28 (18.6%) of the 150 patients. Eight of the identified aberrations are known to cause syndromes, 4 affected the X chromosome in males, 4 were familial, and 13 have yet to be associated with a phenotype. This study demonstrates the benefits of array CGH in clinical diagnostics of developmental disorders. Further, our findings give evidence of new syndromes.
PubMed ID
20503314 View in PubMed
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Autism spectrum disorders associated with X chromosome markers in French-Canadian males.

https://arctichealth.org/en/permalink/ahliterature172206
Source
Mol Psychiatry. 2006 Feb;11(2):206-13
Publication Type
Article
Date
Feb-2006
Author
J. Gauthier
R. Joober
M-P Dubé
J. St-Onge
A. Bonnel
D. Gariépy
S. Laurent
R. Najafee
H. Lacasse
L. St-Charles
E. Fombonne
L. Mottron
G A Rouleau
Author Affiliation
Centre Hospitalier de l'Université de Montréal, Research Centre, Notre Dame Hospital, Montreal, QC, Canada.
Source
Mol Psychiatry. 2006 Feb;11(2):206-13
Date
Feb-2006
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Autistic Disorder - genetics
Canada
Child
Child Development Disorders, Pervasive - genetics
Child, Preschool
Chromosome Mapping
Chromosomes, Human, X - genetics
Gene Frequency
Genetic Markers - genetics
Genetic Predisposition to Disease
Genetics, Population
Haplotypes
Humans
Linkage Disequilibrium
Male
Pedigree
Abstract
It is now well established that genetic factors play an important role in the pathogenesis of autism disorder and converging lines of evidence suggest the implication of the X chromosome. Using a sample of subjects diagnosed with autism spectrum disorders, exclusively composed of males from French-Canadian (FC) origin, we tested markers covering the entire X chromosome using a family-based association study. Our initial analysis revealed the presence of association at two loci: DXS6789 (P=0.026) and DXS8043 (P=0.0101). In a second step, we added support to the association at DXS8043 using additional markers, additional subjects and a haplotype-based analysis (best obtained P-value=0.00001). These results provide support for the existence of a locus on the X chromosome that predisposes the FC to autism spectrum disorders.
PubMed ID
16261168 View in PubMed
Less detail

Bipolar disorder susceptibility region on Xq24-q27.1 in Finnish families.

https://arctichealth.org/en/permalink/ahliterature189632
Source
Mol Psychiatry. 2002;7(5):453-9
Publication Type
Article
Date
2002
Author
J M Ekholm
P. Pekkarinen
P. Pajukanta
T. Kieseppä
T. Partonen
T. Paunio
T. Varilo
M. Perola
J. Lönnqvist
L. Peltonen
Author Affiliation
Department of Molecular Medicine, National Public Health Institute, Helsinki Finland.
Source
Mol Psychiatry. 2002;7(5):453-9
Date
2002
Language
English
Publication Type
Article
Keywords
Bipolar Disorder - epidemiology - genetics
Chromosome Mapping
Chromosomes, Human, X
European Continental Ancestry Group
Family
Female
Finland - epidemiology
Genetic markers
Genetic Predisposition to Disease - genetics
Haplotypes
Humans
Male
Registries
Statistics, nonparametric
Abstract
Bipolar disorder (BPD) is a common disorder characterized by episodes of mania, hypomania and depression. The genetic background of BPD remains undefined, although several putative loci predisposing to BPD have been identified. We have earlier reported significant evidence of linkage for BPD to chromosome Xq24-q27.1 in an extended pedigree from the late settlement region of the genetically isolated population of Finland. Further, we established a distinct chromosomal haplotype covering a 19 cM region on Xq24-q27.1 co-segregating with the disorder. Here, we have further analyzed this X-chromosomal region using a denser marker map and monitored X-chromosomal haplotypes in a study sample of 41 Finnish bipolar families. Only a fraction of the families provided any evidence of linkage to this region, suggesting that a relatively rare gene predisposing to BPD is enriched in this linked pedigree. The genome-wide scan for BPD predisposing loci in this large pedigree indicated that this particular X-chromosomal region provides the best evidence of linkage genome-wide, suggesting an X-chromosomal gene with a major role for the genetic predisposition of BPD in this family.
PubMed ID
12082562 View in PubMed
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[Burden of hereditary diseases in residents of the Sakh republic (Iakutiia)].

https://arctichealth.org/en/permalink/ahliterature181517
Source
Genetika. 2003 Dec;39(12):1719-22
Publication Type
Article
Date
Dec-2003
Author
L A Tarskaia
R A Zinchenko
G I El'chiniova
A G Egorova
M N Korotov
E V Basova
A M Prokop'eva
E N Sivtseva
E E Nikolaeva
E S Banshchikova
M V Samarkina
A N Sannikova
G I Danilova
A F Zhelobtsova
A P Danilova
G N Popova
Author Affiliation
Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, 123182 Russia. tarskaya@yahoo.com
Source
Genetika. 2003 Dec;39(12):1719-22
Date
Dec-2003
Language
Russian
Publication Type
Article
Keywords
Chromosomes, Human, X
Ethnic Groups - statistics & numerical data
Genes, Dominant
Genes, Recessive
Genetic Diseases, Inborn - ethnology - genetics
Genetic Linkage
Humans
Prevalence
Russia - epidemiology
Abstract
Summarized data of medical genetic survey of the population of Republic of Sakha (Yakutia) are presented. The number of the population examined constituted 1000700 individuals (including 424500000 of urban and 576,200 of rural population, respectively). Regarding the ethnicity, 33 regions of the Republic examined were at most inhabited by Yakuts (36%) and Russians (55%). A total of 400 families (606 patients) with autosomal dominant, 274 families (369 patients) with autosomal recessive, and 42 families (53 patients) with X-linked pathologies were detected. The segregation analysis performed showed good correlation with the expected type of inheritance for both dominant and recessive diseases. The prevalence rate of monogenic hereditary diseases for rural and urban populations, as well as for solely Yakuts, was calculated. It was shown that weighted average prevalence of dominant (0.68; 1.44) and recessive (0.43; 0.86) disorders in Yakuts was two times higher than in total population examined.
PubMed ID
14964842 View in PubMed
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Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.

https://arctichealth.org/en/permalink/ahliterature50673
Source
Ophthalmic Genet. 2003 Dec;24(4):215-23
Publication Type
Article
Date
Dec-2003
Author
Sten Andréasson
Debra K Breuer
Louise Eksandh
Vesna Ponjavic
Christina Frennesson
Suja Hiriyanna
Elena Filippova
Beverly M Yashar
Anand Swaroop
Author Affiliation
Department of Ophthalmology, University Hospital of Lund, Lund, Sweden. sten.andreasson@oft.lu.se
Source
Ophthalmic Genet. 2003 Dec;24(4):215-23
Date
Dec-2003
Language
English
Publication Type
Article
Keywords
Adult
Aged
Carrier Proteins - genetics
Chromosomes, Human, X - genetics
DNA Mutational Analysis
Electroretinography
Exons - genetics
Eye Proteins
Female
Genetic Diseases, X-Linked - genetics
Humans
Male
Middle Aged
Mutation - genetics
Open Reading Frames
Pedigree
Proteins - genetics
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Retinitis Pigmentosa - genetics
Sweden
Visual acuity
Visual Fields
Abstract
PURPOSE: To describe new disease-causing RP2 and RPGR-ORF15 mutations and their corresponding clinical phenotypes in Swedish families with X-linked retinitis pigmentosa (XLRP) and to establish genotype-phenotype correlations by studying the clinical spectrum of disease in families with a known molecular defect. METHODS: Seventeen unrelated families with RP and an apparent X-linked pattern of disease inheritance were identified from the Swedish RP registry and screened for mutations in the RP2 and RPGR (for the RP3 disease) genes. These families had been previously screened for the RPGR exons 1-19, and disease-causing mutations were identified in four of them. In the remaining 13 families, we sequenced the RP2 gene and the newly discovered RPGR-ORF exon. Detailed clinical evaluations were then obtained from individuals in the three families with identified mutations. RESULTS: Mutations in RP2 and RPGR-ORF15 were identified in three of the 13 families. Clinical evaluations of affected males and carrier females demonstrated varying degrees of retinal dysfunction and visual handicap, with early onset and severe disease in the families with mutations in the ORF15 exon of the RPGR gene. CONCLUSIONS: A total of seven mutations in the RP2 and RPGR genes have been discovered so far in Swedish XLRP families. All affected individuals express a severe form of retinal degeneration with visual handicap early in life, although the degree of retinal dysfunction varies both in hemizygous male patients and in heterozygous carrier females. Retinal disease phenotypes in patients with mutations in the RPGR-ORF15 were more severe than in patients with mutations in RP2 or other regions of the RPGR.
PubMed ID
14566651 View in PubMed
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Close genetic relationships in vast territories: autosomal and X chromosome Alu diversity in Yakuts from Siberia.

https://arctichealth.org/en/permalink/ahliterature105155
Source
Anthropol Anz. 2013;70(3):309-17
Publication Type
Article
Date
2013
Author
Ares Rocañín-Arjó
Laura Rodríguez-Botigué
Esther Esteban
Catherine Theves
Larissa E Evdokimova
Sardana A Fedorova
Morgane Gibert
Eric Crubezy
Pedro Moral
Author Affiliation
Secció d'Antropologia, Departament de Biologia Animal, Universitat de Barcelona, Barcelona, Spain.
Source
Anthropol Anz. 2013;70(3):309-17
Date
2013
Language
English
Publication Type
Article
Keywords
Alu Elements
Analysis of Variance
Chromosomes, Human, X
Ethnic Groups - genetics
Female
Genetic Variation
Humans
Male
Siberia
Abstract
Twelve autosomal and 8 X chromosome Alu markers were genotyped for the first time in 161 Central and West Yakuts to test their ability to reconstruct the genetic history of these populations, the northernmost Turkic-speaker ethnic group living in Siberia. Autosomal data revealed that both groups showed extremely close genetic distances to other populations of Siberian origins that occupied areas from Lake Baikal, the ancestral place of origin of Yakuts, to North Siberia, their current territories. Autosomal and X chromosome data revealed some discrepancies on the genetic differentiation and the effective sizes of Central and West Yakuts. Such discrepancies could be related to the patrilineal and occasionally polygamous structure of these populations. Autosomal and X Alu markers are informative markers to reconstruct population past demography and history, but their utility is limited by the available data. This study represents a contribution for further investigations on these populations.
PubMed ID
24466640 View in PubMed
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Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer.

https://arctichealth.org/en/permalink/ahliterature87351
Source
Nat Genet. 2008 Mar;40(3):281-3
Publication Type
Article
Date
Mar-2008
Author
Gudmundsson Julius
Sulem Patrick
Rafnar Thorunn
Bergthorsson Jon T
Manolescu Andrei
Gudbjartsson Daniel
Agnarsson Bjarni A
Sigurdsson Asgeir
Benediktsdottir Kristrun R
Blondal Thorarinn
Jakobsdottir Margret
Stacey Simon N
Kostic Jelena
Kristinsson Kari T
Birgisdottir Birgitta
Ghosh Shyamali
Magnusdottir Droplaug N
Thorlacius Steinunn
Thorleifsson Gudmar
Zheng S Lilly
Sun Jielin
Chang Bao-Li
Elmore J Bradford
Breyer Joan P
McReynolds Kate M
Bradley Kevin M
Yaspan Brian L
Wiklund Fredrik
Stattin Par
Lindström Sara
Adami Hans-Olov
McDonnell Shannon K
Schaid Daniel J
Cunningham Julie M
Wang Liang
Cerhan James R
St Sauver Jennifer L
Isaacs Sara D
Wiley Kathleen E
Partin Alan W
Walsh Patrick C
Polo Sonia
Ruiz-Echarri Manuel
Navarrete Sebastian
Fuertes Fernando
Saez Berta
Godino Javier
Weijerman Philip C
Swinkels Dorine W
Aben Katja K
Witjes J Alfred
Suarez Brian K
Helfand Brian T
Frigge Michael L
Kristjansson Kristleifur
Ober Carole
Jonsson Eirikur
Einarsson Gudmundur V
Xu Jianfeng
Gronberg Henrik
Smith Jeffrey R
Thibodeau Stephen N
Isaacs William B
Catalona William J
Mayordomo Jose I
Kiemeney Lambertus A
Barkardottir Rosa B
Gulcher Jeffrey R
Thorsteinsdottir Unnur
Kong Augustine
Stefansson Kari
Author Affiliation
deCODE genetics, 101 Reykjavik, Iceland. julius@decode.is
Source
Nat Genet. 2008 Mar;40(3):281-3
Date
Mar-2008
Language
English
Publication Type
Article
Keywords
Case-Control Studies
Chromosomes, Human, Pair 2
Chromosomes, Human, X
Gene Frequency
Genetic Predisposition to Disease
Genetic Screening
Humans
Iceland
Linkage Disequilibrium
Male
Netherlands
Polymorphism, Single Nucleotide
Prostatic Neoplasms - genetics
Spain
Sweden
United States
Abstract
We conducted a genome-wide SNP association study on prostate cancer on over 23,000 Icelanders, followed by a replication study including over 15,500 individuals from Europe and the United States. Two newly identified variants were shown to be associated with prostate cancer: rs5945572 on Xp11.22 and rs721048 on 2p15 (odds ratios (OR) = 1.23 and 1.15; P = 3.9 x 10(-13) and 7.7 x 10(-9), respectively). The 2p15 variant shows a significantly stronger association with more aggressive, rather than less aggressive, forms of the disease.
PubMed ID
18264098 View in PubMed
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48 records – page 1 of 5.