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    A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis. 
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    • A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis.
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    • Centre for Oral Bioengineering
    • A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis.
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    A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis.

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    Accepted version (2.255Mb)
    Volume
    60
    Pagination
    982 - 988
    Publisher
    Elsevier
    DOI
    10.1016/j.archoralbio.2015.02.023
    Issue
    7
    ISSN
    0003-9969
    Metadata
    Show full item record
    Abstract
    OBJECTIVES: In this study, the aim was to investigate a consanguineous Saudi family with non-syndromic premolars and third molars agenesis and to identify the causal mutation(s) using whole exome sequencing. DESIGN: Family phenotype and family pedigree were constructed from clinical and radiographic examinations. Whole exome sequencing was performed in two affected members of the Saudi family using the SureSelect Human all Exon 50 Mb kit (Agilent Technologies, Inc., Santa Clara, CA) and then sequenced on an Illumina HiSeq. SNP and indel calling were performed using samtools version 0.18 and were annotated using the software ANNOVAR. RESULTS: The family pedigree showed that the inheritance was autosomal dominant. Whole exome sequencing revealed that the affected members in this family were heterozygous with a novel frameshift mutation in exon 2 of the MSX1 gene, (NM_002448:c.750_751insACCGGCTGCC, p.F251PfsX92). CONCLUSIONS: The novel MSX1 frameshift mutation was linked to a family with moderate to severe tooth agenesis phenotype affecting second premolars and third molars in both arches. This expands the genotype-phenotype of MSX1 associated conditions.
    Authors
    AlFawaz, S; Plagnol, V; Wong, FS; Kelsell, DP
    URI
    http://qmro.qmul.ac.uk/xmlui/handle/123456789/9957
    Collections
    • Centre for Oral Bioengineering [483]
    Language
    eng
    Copyright statements
    © 2015. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
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