Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review

Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined... J Clin Immunol (2017) 37:575–581 DOI 10.1007/s10875-017-0423-5 ORIGINAL ARTICLE Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review 1 2,3 3 1 Farrukh Sheikh & Abbas Hawwari & Safa Alhissi & Sulaiman Al Gazlan & 4 1,5 3,6 3 Hasan Al Dhekri & Agha M. Rehan Khaliq & Esteban Borrero & Lina El-Baik & 1,5 4,5,7 3,7 Rand Arnaout & Hamoud Al-Mousa & Anas M. Alazami Received: 10 November 2016 /Accepted: 13 July 2017 /Published online: 24 July 2017 Springer Science+Business Media, LLC 2017 Abstract next-generation sequencing (NGS). The pathogenic change in Introduction Non-homologous end joining gene 1 (NHEJ1) NHEJ1 was confirmed by Sanger sequencing, then further defect is a rare form of primary immune deficiency. Very few assessed at the RNA and protein levels. cases have been described from around the world. Results Patients were found to have a homozygous splice site Purpose We are reporting the first family from the Arabian mutation immediately downstream of exon 3 in NHEJ1 (c.390 + Gulf with three siblings presenting with combined immuno- 1G > C). This led to two distinct mRNA products, one of http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Clinical Immunology Springer Journals

Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review

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Publisher
Springer US
Copyright
Copyright © 2017 by Springer Science+Business Media, LLC
Subject
Biomedicine; Immunology; Infectious Diseases; Internal Medicine; Medical Microbiology
ISSN
0271-9142
eISSN
1573-2592
D.O.I.
10.1007/s10875-017-0423-5
Publisher site
See Article on Publisher Site

Abstract

J Clin Immunol (2017) 37:575–581 DOI 10.1007/s10875-017-0423-5 ORIGINAL ARTICLE Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review 1 2,3 3 1 Farrukh Sheikh & Abbas Hawwari & Safa Alhissi & Sulaiman Al Gazlan & 4 1,5 3,6 3 Hasan Al Dhekri & Agha M. Rehan Khaliq & Esteban Borrero & Lina El-Baik & 1,5 4,5,7 3,7 Rand Arnaout & Hamoud Al-Mousa & Anas M. Alazami Received: 10 November 2016 /Accepted: 13 July 2017 /Published online: 24 July 2017 Springer Science+Business Media, LLC 2017 Abstract next-generation sequencing (NGS). The pathogenic change in Introduction Non-homologous end joining gene 1 (NHEJ1) NHEJ1 was confirmed by Sanger sequencing, then further defect is a rare form of primary immune deficiency. Very few assessed at the RNA and protein levels. cases have been described from around the world. Results Patients were found to have a homozygous splice site Purpose We are reporting the first family from the Arabian mutation immediately downstream of exon 3 in NHEJ1 (c.390 + Gulf with three siblings presenting with combined immuno- 1G > C). This led to two distinct mRNA products, one of

Journal

Journal of Clinical ImmunologySpringer Journals

Published: Jul 24, 2017

References

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