PITX3, 1-BP DEL, 650G AND CATARACT 11, POSTERIOR POLAR

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000043531.2

Allele description [Variation Report for PITX3, 1-BP DEL, 650G]

PITX3, 1-BP DEL, 650G

Gene:
PITX3:paired-like homeodomain 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q25
Preferred name:
PITX3, 1-BP DEL, 650G
HGVS:
    Nucleotide change:
    1-BP DEL, 650G
    Links:
    OMIM: 602669.0003

    Condition(s)

    Name:
    CATARACT 11, POSTERIOR POLAR
    Identifiers:

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000027550OMIMno assertion criteria providedPathogenic
    (Apr 1, 2006)
    germlineliterature only

    PubMed (2)
    [See all records that cite these PMIDs]

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).

    Berry V, Yang Z, Addison PK, Francis PJ, Ionides A, Karan G, Jiang L, Lin W, Hu J, Yang R, Moore A, Zhang K, Bhattacharya SS.

    J Med Genet. 2004 Aug;41(8):e109. No abstract available.

    PubMed [citation]
    PMID:
    15286169
    PMCID:
    PMC1735853

    Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.

    Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI.

    Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1274-80.

    PubMed [citation]
    PMID:
    16565358

    Details of each submission

    From OMIM, SCV000027550.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (2)

    Description

    In affected members of a 4-generation family of Hispanic descent with posterior polar cataract (CTRCT11; 610623), Berry et al. (2004) identified heterozygosity for a 1-bp deletion (650delG) in exon 4 of the PITX3 gene. The affected individuals had no other abnormalities. The mutation was not found in 100 healthy individuals.

    Bidinost et al. (2006) identified the 650delG mutation in heterozygous state in 26 members with posterior polar cataract in a 3-generation Lebanese family. In addition, 2 affected brothers from a consanguineous mating in this family were homozygous for the deletion and had posterior polar cataract, severe microphthalmia, and neurodevelopmental abnormalities (see 610623).

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Dec 5, 2015