A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

2013 ◽  
Vol 56 (1) ◽  
pp. 43-45 ◽  
Author(s):  
Salma M. Wakil ◽  
Saeed Bohlega ◽  
Samya Hagos ◽  
Batoul Baz ◽  
Haya Al Dossari ◽  
...  
Keyword(s):  
Splice Site ◽  
Hereditary Spastic Paraplegia ◽  
Splice Site Mutation ◽  
Spastic Paraplegia ◽  
Site Mutation ◽  
Saudi Family

A novel splice site mutation in the WAS gene causes Wiskott???Aldrich syndrome in two siblings of a Saudi family

2004 ◽  
Vol 15 (7) ◽  
pp. 599-603
Author(s):  
Khaled K Abu-Amero ◽  
Tarek M Owaidah ◽  
Abduallah Al Jefri ◽  
Abdulaziz Al-Ghonaium ◽  
Ibrahim M Fawaz ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Wiskott Aldrich Syndrome ◽  
Saudi Family ◽  
Was Gene

scholarly journals AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria

2018 ◽  
Vol 4 (5) ◽  
pp. e273 ◽  
Author(s):  
Susana Carmona ◽  
Clara Marecos ◽  
Marta Amorim ◽  
Ana C. Ferreira ◽  
Carla Conceição ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Spastic Paraplegia ◽  
Site Mutation

scholarly journals Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report

2021 ◽  
pp. 84-91
Author(s):  
Takahiro Nagai ◽  
Yoko Sunami ◽  
Risa Kato ◽  
Megumi Sugai ◽  
Makoto Takahara ◽  
...  
Keyword(s):  
Cognitive Decline ◽  
Hereditary Spastic Paraplegia ◽  
Clinical Symptoms ◽  
Splice Site Mutation ◽  
Motor Symptom ◽  
Spastic Paraplegia ◽  
Site Mutation ◽  
Neuronal Morphogenesis ◽  
Microtubule Severing

Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by the mutations in the <i>SPAST</i> gene, which encodes a microtubule-severing protein named spastin. Spastin regulates the number and mobility of microtubules and is essential for axonal outgrowth and neuronal morphogenesis. Herein, we report a patient with SPG4 harboring a novel donor splice site mutation in the <i>SPAST</i> gene (c.1616+1dupG). Although SPG4 usually manifests itself as a pure form of HSP, this patient exhibited a slow progressive cognitive decline and also developed narcolepsy type 2 (narcolepsy without cataplexy) prior to the onset of SPG4. Recently, cognitive decline has attracted attention as a main non-motor symptom of SPG4. However, this is the first reported case of a patient developing both SPG4 and narcolepsy, although it remains unclear whether the manifestation of the two diseases is a coincidence or an association. In this report, we describe the clinical symptoms and genetic background of the patient.

scholarly journals Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree

1998 ◽  
Vol 11 (S1) ◽  
pp. S240-S241 ◽  
Author(s):  
Stephan Claes ◽  
Tania Aguirre ◽  
Venancio Simosa ◽  
Tania Bustos ◽  
Rafael Lander ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Spastic Paraplegia ◽  
Site Mutation ◽  
Donor Splice

A novel splice site mutation in the WAS gene causes Wiskott–Aldrich syndrome in two siblings of a Saudi family

2004 ◽  
Vol 15 (7) ◽  
pp. 599-603
Author(s):  
Khaled K Abu-Amero ◽  
Tarek M Owaidah ◽  
Abduallah Al Jefri ◽  
Abdulaziz Al-Ghonaium ◽  
Ibrahim M Fawaz ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Wiskott Aldrich Syndrome ◽  
Saudi Family ◽  
Was Gene

Emery-Dreifuss Muscular Dystrophy Type 1 in a 15-Year-Old Patient Due to a Novel Putative Splice-Site Mutation

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
O. Schwartz ◽  
J. Althaus ◽  
B. Fiedler ◽  
K. Heß ◽  
W. Paulus ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation

2018 ◽  
Vol 70 (5) ◽  
Author(s):  
Melahat M. Oguz ◽  
Meltem Akcaboy ◽  
Asuman Gurkan ◽  
Esma Altinel Acoglu ◽  
Pelin Zorlu ◽  
...  
Keyword(s):  
Splice Site ◽  
Fever Of Unknown Origin ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
Unknown Origin ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Site Mutation
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