Case Report
JBCGenetics. 2021; 4(2): 118-121

Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis

Authors: Rehab Al Jawad, Omhani Malibari.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1609604470

Abstract

Background: Alpha-mannosidosis [Online Mendelian Inheritance in Man (OMIM): 248500] is an autosomal recessive disorder due to a deficiency of the lysosomal enzyme alpha-mannosidase. It is an ultra-orphan disease. In this paper, we report a case of alpha-mannosidosis in a Saudi boy of consanguineous parents, who was referred to our hospital to be worked up for possible mucopolysaccharidosis. Case Presentation: The patient was presented with dysmorphic features, global developmental delay, hearing defect, and recurrent respiratory tract infections. On examination, he had short stature, a short neck, cataracts, hearing impairment, chest deformity, hepatomegaly, umbilical hernia, right inguinal hernia, and two Mongolian spots in the back. He had normal peripheral blood smear: urinary oligosaccharide and dry blood spot for mucopolysaccharide enzyme assay founded to be negative. Definitive diagnosis was performed by directly sequencing the MAN2B1 gene of the peripheral blood leukocytes. It showed a homozygous variant c.1065delC; p.Ala356fs*7 (NM_001173498.1) as likely pathogenic. Conclusion: We report a novel variant mutation in MAN2B1 gene mutation. Also, to the best of authors' knowledge, this is the first reported case of alpha-mannosidosis in a Saudi patient.

Keywords:   MAN2B1, lysosomal enzyme, alpha-mannosidosis, lysosomal storage disease, human gene mutation database


© Copyright: Author(s)

Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis


Authors
Rehab Al Jawad
Department of Pediatrics, Madina Maternity and Children Hospital, Al-Madina Al-Munawara, Saudi Arabia
PubMed articlesGoogle scholar articles

Omhani Malibari
Master of Advanced Studies in Clinical Research, University of California, San Diego, La Jolla, CA
PubMed articlesGoogle scholar articles


Correspondence to:
. Rehab Al Jawad, Department of Pediatrics, Madina Maternity and Children Hospital, Al-Madinah Al-Munawara, Saudi Arabia.; rehab.aljawad@gmail.com

Publication history
Received 14 Jan 2021
Revised 26 Apr 2021
Accepted 30 May 2021
Published online 13 Jul 2021
Published in print 28 Aug 2021

How to cite this article

Pubmed Style

Jawad RA, Malibari O. Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis. JBCGenetics. 2021; 4(2): 118-121. doi:10.24911/JBCGenetics/183-1609604470


Web Style

Jawad RA, Malibari O. Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis. https://www.jbcgenetics.com//?mno=39034 [Access: December 08, 2021]. doi:10.24911/JBCGenetics/183-1609604470


AMA (American Medical Association) Style

Jawad RA, Malibari O. Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis. JBCGenetics. 2021; 4(2): 118-121. doi:10.24911/JBCGenetics/183-1609604470


Vancouver/ICMJE Style

Jawad RA, Malibari O. Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis. JBCGenetics. (2021), [cited December 08, 2021]; 4(2): 118-121. doi:10.24911/JBCGenetics/183-1609604470


Harvard Style

Jawad, R. A. & Malibari, . O. (2021) Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis. JBCGenetics, 4 (2), 118-121. doi:10.24911/JBCGenetics/183-1609604470


Turabian Style

Jawad, Rehab Al, and Omhani Malibari. 2021. Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis. Journal of Biochemical and Clinical Genetics, 4 (2), 118-121. doi:10.24911/JBCGenetics/183-1609604470


Chicago Style

Jawad, Rehab Al, and Omhani Malibari. "Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis." Journal of Biochemical and Clinical Genetics 4 (2021), 118-121. doi:10.24911/JBCGenetics/183-1609604470


MLA (The Modern Language Association) Style

Jawad, Rehab Al, and Omhani Malibari. "Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis." Journal of Biochemical and Clinical Genetics 4.2 (2021), 118-121. Print. doi:10.24911/JBCGenetics/183-1609604470


APA (American Psychological Association) Style

Jawad, R. A. & Malibari, . O. (2021) Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis. Journal of Biochemical and Clinical Genetics, 4 (2), 118-121. doi:10.24911/JBCGenetics/183-1609604470


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