E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report

Online Publishing Date:
13 / 07 / 2021

 


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

Rehab Al Jawad, Omhani Malibari.


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.

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


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Rehab Al Jawad
Articles by Omhani Malibari
on Google
on Google Scholar


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: March 14, 2024]. 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 March 14, 2024]; 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





Most Viewed Articles
Most Accessed Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • The role of C-terminal tensin-like (Cten) gene in cancer metastasis
    Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
    JBCGenetics. 2018; 1(1): 2-9
    » Abstract » doi: 10.24911/JBCGenetics/183-1531548689

  • Clinical reassessment of post-laboratory variant call format (VCF) files
    Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
    JBCGenetics. 2018; 1(1): 31-36
    » Abstract » doi: 10.24911/JBCGenetics/183-1529928114

  • Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
    AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
    JBCGenetics. 2018; 1(1): 37-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1530040885

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Most Downloaded
    Top Downloaded Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
    Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
    JBCGenetics. 2019; 2(1): 28-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1542047633

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923

  • Most Cited Articles
    Most Cited Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389
    Cited : 4 times [Click to see citing articles]

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257
    Cited : 4 times [Click to see citing articles]

  • Genomics in Saudi Arabia Call for Data-Sharing Policy
    Ahmed Alfares,
    JBCGenetics. 2018; 1(2): 51-52
    » Abstract » doi: 10.24911/JBCGenetics/183-1546945268
    Cited : 4 times [Click to see citing articles]

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923
    Cited : 2 times [Click to see citing articles]

  • Harel-Yoon syndrome: the first case report from Saudi Arabia
    Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
    JBCGenetics. 2020; 3(1): 22-27
    » Abstract » doi: 10.24911/JBCGenetics/183-1585816398
    Cited : 2 times [Click to see citing articles]