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
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/index.php/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