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A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.

Abstract

The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia. The different types of MOPD have been delineated on the basis of clinical, radiological, and genetic criteria. We describe two brothers, born to healthy, consanguineous parents, with intrauterine and postnatal growth retardation, microcephaly with abnormal gyral pattern and partial agenesis of corpus callosum, and skeletal anomalies reminiscent of those described in MOPD type I. This was confirmed by the identification of the homozygous g.55G > A mutation of RNU4ATAC encoding U4atac snRNA. The sibs had yellowish-gray hair, fair skin, and deficient retinal pigmentation. Skin biopsy showed abnormal melanin function but OCA genes were normal. The older sib had an intracranial hemorrhage at 1 week after birth, the younger developed chilblains-like lesions at the age 2½ years old but analysis of the SAMHD1 and TREX1 genes did not show any mutations. To the best of our knowledge, vasculopathy and pigmentary disorders have not been reported in MOPD I.

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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

    Adolescent
    Agenesis of Corpus Callosum
    Child, Preschool
    Consanguinity
    Developmental Disabilities
    Dwarfism
    Female
    Fetal Growth Retardation
    Genotype
    Humans
    Infant
    Infant, Newborn
    Male
    Microcephaly
    Mutation
    Osteochondrodysplasias
    Pedigree
    Physical Examination
    Pigmentation Disorders
    Pregnancy
    Pregnancy Trimester, Third
    RNA, Small Nuclear
    Siblings

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    21990275

    Citation

    Abdel-Salam, Ghada M H., et al. "A Homozygous Mutation in RNU4ATAC as a Cause of Microcephalic Osteodysplastic Primordial Dwarfism Type I (MOPD I) With Associated Pigmentary Disorder." American Journal of Medical Genetics. Part A, vol. 155A, no. 11, 2011, pp. 2885-96.
    Abdel-Salam GM, Miyake N, Eid MM, et al. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. Am J Med Genet A. 2011;155A(11):2885-96.
    Abdel-Salam, G. M., Miyake, N., Eid, M. M., Abdel-Hamid, M. S., Hassan, N. A., Eid, O. M., ... Matsumoto, N. (2011). A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. American Journal of Medical Genetics. Part A, 155A(11), pp. 2885-96. doi:10.1002/ajmg.a.34299.
    Abdel-Salam GM, et al. A Homozygous Mutation in RNU4ATAC as a Cause of Microcephalic Osteodysplastic Primordial Dwarfism Type I (MOPD I) With Associated Pigmentary Disorder. Am J Med Genet A. 2011;155A(11):2885-96. PubMed PMID: 21990275.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. AU - Abdel-Salam,Ghada M H, AU - Miyake,Noriko, AU - Eid,Maha M, AU - Abdel-Hamid,Mohamed S, AU - Hassan,Nihal A, AU - Eid,Ola M, AU - Effat,Laila K, AU - El-Badry,Tarek H, AU - El-Kamah,Ghada Y, AU - El-Darouti,Mohamed, AU - Matsumoto,Naomichi, Y1 - 2011/10/11/ PY - 2011/07/03/received PY - 2011/08/17/accepted PY - 2011/10/13/entrez PY - 2011/10/13/pubmed PY - 2012/2/10/medline SP - 2885 EP - 96 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 155A IS - 11 N2 - The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia. The different types of MOPD have been delineated on the basis of clinical, radiological, and genetic criteria. We describe two brothers, born to healthy, consanguineous parents, with intrauterine and postnatal growth retardation, microcephaly with abnormal gyral pattern and partial agenesis of corpus callosum, and skeletal anomalies reminiscent of those described in MOPD type I. This was confirmed by the identification of the homozygous g.55G > A mutation of RNU4ATAC encoding U4atac snRNA. The sibs had yellowish-gray hair, fair skin, and deficient retinal pigmentation. Skin biopsy showed abnormal melanin function but OCA genes were normal. The older sib had an intracranial hemorrhage at 1 week after birth, the younger developed chilblains-like lesions at the age 2½ years old but analysis of the SAMHD1 and TREX1 genes did not show any mutations. To the best of our knowledge, vasculopathy and pigmentary disorders have not been reported in MOPD I. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/21990275/A_homozygous_mutation_in_RNU4ATAC_as_a_cause_of_microcephalic_osteodysplastic_primordial_dwarfism_type_I__MOPD_I__with_associated_pigmentary_disorder_ L2 - https://doi.org/10.1002/ajmg.a.34299 DB - PRIME DP - Unbound Medicine ER -