GLORIA

GEOMAR Library Ocean Research Information Access

X

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Online Resource
    Online Resource
    A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis
    Elsevier BV ; 2009
    In:  The American Journal of Human Genetics Vol. 84, No. 2 ( 2009-02), p. 274-278
    Details
    In: The American Journal of Human Genetics, Elsevier BV, Vol. 84, No. 2 ( 2009-02), p. 274-278
    Type of Medium: Online Resource
    ISSN: 0002-9297
    URL: Article
    DOI: 10.1016/j.ajhg.2009.01.007
    RVK:
    XA 10000
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2009
    detail.hit.zdb_id: 1473813-2
    SSG: 12
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 2
    Online Resource
    Online Resource
    DataSheet1.docx
    Frontiers Media SA ; 2024
    In:  Frontiers in Genetics Vol. 15 ( 2024-3-20)
    Details
    In: Frontiers in Genetics, Frontiers Media SA, Vol. 15 ( 2024-3-20)
    Abstract: Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and interests, with strong clinical heterogeneity. Genetic factors play an important role in ASD, but about 75% of ASD cases have an undetermined genetic risk. Methods: We extensively investigated an ASD cohort made of 102 families from the Middle Eastern population of Qatar. First, we investigated the copy number variations (CNV) contribution using genome-wide SNP arrays. Next, we employed Next Generation Sequencing (NGS) to identify de novo or inherited variants contributing to the ASD etiology and its associated comorbid conditions in families with complete trios (affected child and the parents). Results: Our analysis revealed 16 CNV regions located in genomic regions implicated in ASD. The analysis of the 88 ASD cases identified 41 genes in 39 ASD subjects with de novo (n = 24) or inherited variants (n = 22). We identified three novel de novo variants in new candidate genes for ASD ( DTX4 , ARMC6 , and B3GNT3 ). Also, we have identified 15 de novo variants in genes that were previously implicated in ASD or related neurodevelopmental disorders ( PHF21A , WASF1 , TCF20 , DEAF1 , MED13 , CREBBP , KDM6B, SMURF1 , ADNP , CACNA1G , MYT1L , KIF13B , GRIA2 , CHM , and KCNK9 ). Additionally, we defined eight novel recessive variants ( RYR2 , DNAH3 , TSPYL2 , UPF3B KDM5C , LYST , and WNK3 ), four of which were X-linked. Conclusion: Despite the ASD multifactorial etiology that hinders ASD genetic risk discovery, the number of identified novel or known putative ASD genetic variants was appreciable. Nevertheless, this study represents the first comprehensive characterization of ASD genetic risk in Qatar's Middle Eastern population.
    Type of Medium: Online Resource
    ISSN: 1664-8021
    URL: Article
    URL: Article
    DOI: 10.3389/fgene.2024.1363849
    DOI: 10.3389/fgene.2024.1363849.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2024
    detail.hit.zdb_id: 2606823-0
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 3
    Online Resource
    Online Resource
    Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families
    MDPI AG ; 2021
    In:  Genes Vol. 12, No. 5 ( 2021-05-18), p. 761-
    Details
    In: Genes, MDPI AG, Vol. 12, No. 5 ( 2021-05-18), p. 761-
    Abstract: Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by abnormalities in language and social communication with substantial clinical heterogeneity. Genetic factors play an important role in ASD with heritability estimated between 70% to 80%. Genome-wide association studies (GWAS) have identified multiple loci associated with ASD. However, most studies were performed on European populations and little is known about the genetic architecture of ASD in Middle Eastern populations. Here, we report the first GWAS of ASD in the Middle eastern population of Qatar. We analyzed 171 families with ASD, using linear mixed models adjusting for relatedness and other confounders. Results showed that common single nucleotide polymorphisms (SNP) in seven loci are associated with ASD (p 〈 1 × 10−5). Although the identified loci did not reach genome-wide significance, many of the top associated SNPs are located within or near genes that have been implicated in ASD or related neurodevelopmental disorders. These include GORASP2, GABBR2, ANKS6, THSD4, ERCC6L, ARHGEF6, and HDAC8. Additionally, three of the top associated SNPs were significantly associated with gene expression. We also found evidence of association signals in two previously reported ASD-susceptibility loci (rs10099100 and rs4299400). Our results warrant further functional studies and replication to provide further insights into the genetic architecture of ASD.
    Type of Medium: Online Resource
    ISSN: 2073-4425
    URL: Article
    DOI: 10.3390/genes12050761
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2527218-4
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...