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Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

Abstract

Mutations in the RNU4ATAC gene cause microcephalic osteodysplastic primordial dwarfism type I. It encodes U4atac, a small nuclear RNA that is a component of the minor spliceosome. Six distinct mutations in 30 patients diagnosed as microcephalic osteodysplastic primordial dwarfism type I have been described. We report on three additional patients from two unrelated families presenting with a milder phenotype of microcephalic osteodysplastic primordial dwarfism type I and metopic synostosis. Patient 1 had two novel heterozygous mutations in the 3' prime stem-loop, g.66G > C and g.124G > A while Patients 2 and 3 had a homozygous mutation g.55G > A in the 5' prime stem-loop. Although they manifested the known spectrum of clinical features of microcephalic osteodysplastic primordial dwarfism type I, they lacked evidence of severe developmental delay and neurological symptoms. These findings expand the mutational and phenotypic spectrum of this syndrome.

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  • Authors+Show Affiliations

    ,

    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. ghada.abdelsalam@yahoo.com

    , , , ,

    Source

    MeSH

    Abnormalities, Multiple
    Dwarfism
    Facies
    Female
    Fetal Growth Retardation
    Humans
    Infant
    Limb Deformities, Congenital
    Male
    Microcephaly
    Mutation
    Neuroimaging
    Osteochondrodysplasias
    Pelvis
    Phenotype
    RNA, Small Nuclear
    Radiography

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    22581640

    Citation

    Abdel-Salam, Ghada M H., et al. "Expanding the Phenotypic and Mutational Spectrum in Microcephalic Osteodysplastic Primordial Dwarfism Type I." American Journal of Medical Genetics. Part A, vol. 158A, no. 6, 2012, pp. 1455-61.
    Abdel-Salam GM, Abdel-Hamid MS, Issa M, et al. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. Am J Med Genet A. 2012;158A(6):1455-61.
    Abdel-Salam, G. M., Abdel-Hamid, M. S., Issa, M., Magdy, A., El-Kotoury, A., & Amr, K. (2012). Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. American Journal of Medical Genetics. Part A, 158A(6), pp. 1455-61. doi:10.1002/ajmg.a.35356.
    Abdel-Salam GM, et al. Expanding the Phenotypic and Mutational Spectrum in Microcephalic Osteodysplastic Primordial Dwarfism Type I. Am J Med Genet A. 2012;158A(6):1455-61. PubMed PMID: 22581640.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. AU - Abdel-Salam,Ghada M H, AU - Abdel-Hamid,Mohamed S, AU - Issa,Mahmoud, AU - Magdy,Ahmed, AU - El-Kotoury,Ahmed, AU - Amr,Khalda, Y1 - 2012/05/11/ PY - 2011/12/01/received PY - 2012/02/02/accepted PY - 2012/5/15/entrez PY - 2012/5/15/pubmed PY - 2012/9/25/medline SP - 1455 EP - 61 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 158A IS - 6 N2 - Mutations in the RNU4ATAC gene cause microcephalic osteodysplastic primordial dwarfism type I. It encodes U4atac, a small nuclear RNA that is a component of the minor spliceosome. Six distinct mutations in 30 patients diagnosed as microcephalic osteodysplastic primordial dwarfism type I have been described. We report on three additional patients from two unrelated families presenting with a milder phenotype of microcephalic osteodysplastic primordial dwarfism type I and metopic synostosis. Patient 1 had two novel heterozygous mutations in the 3' prime stem-loop, g.66G > C and g.124G > A while Patients 2 and 3 had a homozygous mutation g.55G > A in the 5' prime stem-loop. Although they manifested the known spectrum of clinical features of microcephalic osteodysplastic primordial dwarfism type I, they lacked evidence of severe developmental delay and neurological symptoms. These findings expand the mutational and phenotypic spectrum of this syndrome. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/22581640/Expanding_the_phenotypic_and_mutational_spectrum_in_microcephalic_osteodysplastic_primordial_dwarfism_type_I_ L2 - https://doi.org/10.1002/ajmg.a.35356 DB - PRIME DP - Unbound Medicine ER -