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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
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, Volume 155, No. 11, Year 2011
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Description
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 21/2 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.
Authors & Co-Authors
Abdel-Salam, Ghada M.H.
Egypt, Giza
National Research Centre
Miyake, Noriko
Japan, Yokohama
Graduate School of Medicine
Eid, Maha Mohamed
Egypt, Giza
National Research Centre
Abdel-Hamid, M. S.
Egypt, Giza
National Research Centre
Hassan, Nihal Adel
Egypt, Cairo
Faculty of Medicine
Eid, Ola M.
Egypt, Giza
National Research Centre
Effat, Laila Kamal El Din
Egypt, Giza
National Research Centre
El. Badry, Tarek Hamed M.
Egypt, Giza
National Research Centre
El-Kamah, Ghada Youssef
Egypt, Giza
National Research Centre
EL DAROUTI, MOHAMED A.
Egypt, Cairo
Faculty of Medicine
Matsumoto, Naomichi
Japan, Yokohama
Graduate School of Medicine
Statistics
Citations: 28
Authors: 11
Affiliations: 3
Identifiers
Doi:
10.1002/ajmg.a.34299
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health