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Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.
Am J Med Genet A 2012; 158A(6):1455-61AJ

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.

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 available

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 -