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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T
Gene, Volume 536, No. 1, Year 2014
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Description
Recessive mutations in the alsin gene cause three clinically distinct motor neuron diseases: juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis (JPLS) and infantile-onset ascending hereditary spastic paraplegia (IAHSP). A total of 23 different ALS2 mutations have been described for the three disorders so far. Most of these mutations result in a frameshift leading to a premature truncation of the alsin protein. We report the novel ALS2 truncating mutation c.2761C > T; p.R921X detected by homozygosity mapping and sequencing in two infants affected by IAHSP with bulbar involvement. The mutation c.2761C > T resides in the pleckstrin domain, a characteristic segment of guanine nucleotide exchange factors of the Rho GTPase family, which is involved in the overall neuronal development or maintenance. This study highlights the importance of using homozygosity mapping combined with candidate gene analysis to identify the underlying genetic defect as in this Saudi consanguineous family. © 2013 Elsevier B.V.
Authors & Co-Authors
Wakil, Salma Majid
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Ramzan, Khushnooda
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Abuthuraya, Rula
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Hagos, Samya T.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al Dossari, Haya
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Omar, Rana
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Murad, Hatem
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Chedrawi, Aziza
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Hassnan, Zuhair Nasser
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Finsterer, Josef H.
Austria, Vienna
Rudolfstifung Hospital
Bohlega, Saeed A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Statistics
Citations: 23
Authors: 11
Affiliations: 2
Identifiers
Doi:
10.1016/j.gene.2013.11.043
ISSN:
03781119
e-ISSN:
18790038
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health