Case Report

Volume: 4 | Issue: 2 | Published: Jul 13, 2021 | Pages: 118 - 121 | DOI: 10.24911/JBCGenetics/183-1609604470

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

Authors: Rehab Al Jawad , Omhani Malibari

Article Info

Authors

Rehab Al Jawad

Department of Pediatrics, Madina Maternity and Children Hospital, Al-Madina Al-Munawara, Saudi Arabia

Omhani Malibari

Master of Advanced Studies in Clinical Research, University of California, San Diego, La Jolla, CA

Publication History

Received: January 14, 2021

Revised: April 26, 2021

Accepted: May 30, 2021

Published: July 13, 2021

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

Open access Creative Commons License

Pubmed Style

Rehab Al Jawad, Omhani Malibari. Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis. JBC Genetics. 2021; 13 (July 2021): 118-121. doi:10.24911/JBCGenetics/183-1609604470

Web Style

Rehab Al Jawad, Omhani Malibari. Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis. https://www.jbcgenetics.com/articles/2141 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1609604470

AMA (American Medical Association) Style

Rehab Al Jawad, Omhani Malibari. Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis. JBC Genetics. 2021; 13 (July 2021): 118-121. doi:10.24911/JBCGenetics/183-1609604470

Vancouver/ICMJE Style

Rehab Al Jawad, Omhani Malibari. Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis. JBC Genetics. (2021), [cited April 27, 2025]; 13 (July 2021): 118-121. doi:10.24911/JBCGenetics/183-1609604470

Harvard Style

Rehab Al Jawad, Omhani Malibari (2021) Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis. JBC Genetics, 13 (July 2021): 118-121. doi:10.24911/JBCGenetics/183-1609604470

Chicago Style

Rehab Al Jawad, Omhani Malibari. "Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis." 13 (2021), 118-121. doi:10.24911/JBCGenetics/183-1609604470

MLA (The Modern Language Association) Style

Rehab Al Jawad, Omhani Malibari. "Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis." 13.July 2021 (2021), 118-121. Print. doi:10.24911/JBCGenetics/183-1609604470

APA (American Psychological Association) Style

Rehab Al Jawad, Omhani Malibari (2021) Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis. , 13 (July 2021), 118-121. doi:10.24911/JBCGenetics/183-1609604470