Clinical Report

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

  1. Ghada M.H. Abdel-Salam1,*,
  2. Noriko Miyake2,
  3. Maha M. Eid3,
  4. Mohamed S. Abdel-Hamid4,
  5. Nihal A. Hassan5,
  6. Ola M. Eid3,
  7. Laila K. Effat4,
  8. Tarek H. El-Badry6,
  9. Ghada Y. El-Kamah1,
  10. Mohamed El-Darouti7,
  11. Naomichi Matsumoto2,*

Article first published online: 11 OCT 2011

DOI: 10.1002/ajmg.a.34299

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 155, Issue 11, pages 2885–2896, November 2011

Additional Information

How to Cite

Abdel-Salam, G. M., Miyake, N., Eid, M. M., Abdel-Hamid, M. S., Hassan, N. A., Eid, O. M., Effat, L. K., El-Badry, T. H., El-Kamah, G. Y., El-Darouti, M. and 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, 155: 2885–2896. doi: 10.1002/ajmg.a.34299

Author Information

  1. 1

    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

  2. 2

    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan

  3. 3

    Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

  4. 4

    Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

  5. 5

    Ophthalmology Department, Faculty of Medicine, Cairo University, Cairo, Egypt

  6. 6

    Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

  7. 7

    Department of Dermatology, Faculty of Medicine, Cairo University, Cairo, Egypt

*Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Tahrir Street, Dokki, Cairo, Egypt.

  1. †

    How to Cite this Article: Abdel-Salam GMH, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti 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. Am J Med Genet Part A 155: 2885–2896.

Publication History

  1. Issue published online: 20 OCT 2011
  2. Article first published online: 11 OCT 2011
  3. Manuscript Accepted: 17 AUG 2011
  4. Manuscript Received: 3 JUL 2011

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Keywords:

  • microcephalic osteodysplastic primordial dwarfism I (MOPD I);
  • abnormal gyral pattern;
  • pigmentary disorder;
  • hypogenesis of corpus callosum;
  • chilblains;
  • fair skin;
  • U4atac snRNA;
  • vasculopathy;
  • retinal pigmentation;
  • microdontia

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. © 2011 Wiley Periodicals, Inc.

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