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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.
Am J Med Genet A 2011; 155A(11):2885-96AJ

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.

Authors+Show Affiliations

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. ghada.abdelsalam@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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 -