A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain, non-erythrocytic 4) with syndromic neurodevelopmental phenotype in a consanguineous family of Saudi Origin.

Raja Hussain Ali; Muhammad Umair

doi:10.24911/JBCGenetics.183-1734529400

2024, Vol: 7, Issue: 2

7 / 2Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles

Required files to be uploaded

Title Page

« Previous Article

Original Article
Online Published: 19 Jan 2025

JBCGenetics. 2024; 7(2):

doi: 10.24911/JBCGenetics.183-1734529400

A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain, non-erythrocytic 4) with syndromic neurodevelopmental phenotype in a consanguineous family of Saudi Origin.

Raja Hussain Ali, Muhammad Umair.

Abstract
Background:
The genetic Neurological disorders are both clinically and genetically heterogeneous. Among them Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is a rare autosomal recessive genetic syndromic condition. This study is aimed to characterize the underlying genetic cause of mutisystemic dysfunction in a single consanguineous family of Saudi origin.
Methods:
This study investigated the causal genetic changes in the affected family member with neurological issue and deafness issues along with muscular weakness using unbiased whole genome sequencing.
Results:
The genetic investigation uncovered a novel missense change (c.5501G>A; p.Arg1834Gln) in the exon 26 Of SPTBN4 gene located on 19q13.2, which segregated in accordance with the autosomal recessive inheritance model.
Conclusion:
This study establishes a genotype-phenotype correlation for the Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519), and reinforce the concept that variants of uncertain significance (UVS) including the one found in this report holds yet to be fully uncovered role in influencing the gene specific phenotypes for a particular genetic condition.

Key words: Novel Mutation, SPTBN4, NEDHND, Syndromic neurological disorder

	ARTICLE TOOLS
	Abstract
	PDF Fulltext
	How to cite this article
	Citation Tools
	Related Records
	Articles by Raja Hussain Ali Articles by Muhammad Umair
	on Google
	on Google Scholar

How to Cite this Article

Pubmed Style

Ali RH, Umair M. A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain, non-erythrocytic 4) with syndromic neurodevelopmental phenotype in a consanguineous family of Saudi Origin.. JBCGenetics. Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1734529400

Web Style

Ali RH, Umair M. A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain, non-erythrocytic 4) with syndromic neurodevelopmental phenotype in a consanguineous family of Saudi Origin.. https://www.jbcgenetics.com/?mno=233607 [Access: January 19, 2025]. doi:10.24911/JBCGenetics.183-1734529400

AMA (American Medical Association) Style

Ali RH, Umair M. A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain, non-erythrocytic 4) with syndromic neurodevelopmental phenotype in a consanguineous family of Saudi Origin.. JBCGenetics. Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1734529400

Vancouver/ICMJE Style

Ali RH, Umair M. A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain, non-erythrocytic 4) with syndromic neurodevelopmental phenotype in a consanguineous family of Saudi Origin.. JBCGenetics, [cited January 19, 2025]; Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1734529400

Harvard Style

Ali, R. H. & Umair, . M. (2024) A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain, non-erythrocytic 4) with syndromic neurodevelopmental phenotype in a consanguineous family of Saudi Origin.. JBCGenetics, Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1734529400

Turabian Style

Ali, Raja Hussain, and Muhammad Umair. 2024. A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain, non-erythrocytic 4) with syndromic neurodevelopmental phenotype in a consanguineous family of Saudi Origin.. Journal of Biochemical and Clinical Genetics, Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1734529400

Chicago Style

Ali, Raja Hussain, and Muhammad Umair. "A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain, non-erythrocytic 4) with syndromic neurodevelopmental phenotype in a consanguineous family of Saudi Origin.." Journal of Biochemical and Clinical Genetics Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1734529400

MLA (The Modern Language Association) Style

APA (American Psychological Association) Style

Ali, R. H. & Umair, . M. (2024) A novel Homozygous Mutation in SPTBN4 (Spectrin beta chain, non-erythrocytic 4) with syndromic neurodevelopmental phenotype in a consanguineous family of Saudi Origin.. Journal of Biochemical and Clinical Genetics, Online First: 19 Jan, 2025. doi:10.24911/JBCGenetics.183-1734529400

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

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]

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]

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]

About Journal of Biochemical and Clinical Genetics

The Journal of Biochemical and Clinical Genetics (JBCGenetics) is a peer-reviewed, open access medical journal. Owner: Saudi Society of Medical ... Read more.

For best results, please use Internet Explorer or Google Chrome.

Contact Information

Title Owner: Saudi Society of Medical Genetics

https://ssmg.org.sa/en

Society Email: info@ssmg.org.sa

Editor in Chief: dralfadhelm@jbcgenetics.com

Contact the publisher:

contact@discoverpublish.com
https://discoverpublish.com/

Publisher: Discover STM Publishing Ltd,

82 Leslie's Arch, Old Quarter, Ballincollig, Cork, P31 RY62, Ireland.

Hours: M-F: 8:30am - 5:30pm

Contact Emails:

Journal Editorial Office: contact@jbcgenetics.com

Billing Support: contact@discoverpublish.com

Technical Support:
anastasiia.pavlenco@sofiafields.com
https://sofiafields.com/

POLICIES & JOURNAL LINKS

About Journal of Biochemical and Clinical Genetics

Contact Information

How to cite this article