FMR1, SER27TER AND Fragile X syndrome

Clinical significance:Pathogenic (Last evaluated: Oct 10, 2013)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000022880.3

Allele description [Variation Report for ]

Gene:
FMR1:fragile X mental retardation 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq27.3
Preferred name:
FMR1, SER27TER
HGVS:
    Protein change:
    S27*; SER27TER
    Links:
    OMIM: 309550.0005

    Condition(s)

    Name:
    Fragile X syndrome
    Synonyms:
    FRAGILE X MENTAL RETARDATION SYNDROME; MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28; Fragile X syndrome, type A
    Identifiers:
    MedGen: C0016667; Orphanet: 908; OMIM: 300624
    Age of onset:
    Childhood
    Prevalence:
    • 1-5 / 10 000 Orphanet: 908
    • males affected with fragile X syndrome: 1:2,564 to 1:6,250 females affected with fragile X syndrome: approximately one-half the males prevalence Unaffected female FMR1 carriers: 1:113 to 1:382 Females with FMR1-related POF: 1:7 (1:15 for the general population)

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    Assertion and evidence details

    Submission AccessionSubmitterReview StatusClinical Significance
    (Last evaluated)
    OriginMethodConsequenceCitations
    SCV000044171OMIMPathogenic
    (Oct 10, 2013)
    germlineliterature only

    PubMed (1)
    [See all records that cite this PMID]

    Summary from all submissions

    EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    A nonsense mutation in FMR1 causing fragile X syndrome.

    Gr√łnskov K, Br√łndum-Nielsen K, Dedic A, Hjalgrim H.

    Eur J Hum Genet. 2011 Apr;19(4):489-91. doi: 10.1038/ejhg.2010.223. Epub 2011 Jan 26.

    PubMed [citation]
    PMID:
    21267007
    PMCID:
    PMC3060329

    Details of each submission

    From OMIM, SCV000044171.1

    #EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)

    Description

    In a man with classic features of fragile X syndrome (300624), Gronskov et al. (2011) identified an 80C-A transversion in exon 2 of the FMR1 gene, resulting in a ser27-to-ter (S27X) substitution. The patient had mental retardation, early-onset seizures, poor language development, and autistic tendencies. Dysmorphic features included an elongated face, high and broad forehead, low-set large ears, prognathia, and enlarged testes. Neurologic examination showed hypotonia and hypermobility, with hyperextensible joints. Western blot analysis of patient lymphoblastoid cells showed no FMRP protein expression. His mother, who also carried the mutation, had mild to moderate intellectual disability, hypermotor behavior, and automatisms.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Mar 20, 2015

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