A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.
Autosomal recessive early onset forms of motor neuron disorders including infantile-onset ascending hereditary spastic paraplegia (OMIM #607225) are due to homozygous mutations in the ALS2 gene. Here, we report on a novel splice-site mutation of the ALS2 (c.2351+2C>A) in four children of a consanguineous union with infantile-onset ascending hereditary spastic paraplegia.
Department of Medical Genetics, Dr Faruk Sükan Maternity and Pediatric Hospital, Konya, Turkey. Electronic address: drhaticekocak@hotmail.com.
Hatice Koçak
HK
Eker
Elvankent Ayyıldız Family Health Center, Ankara, Turkey.
Süleyman Ersin
SE
Unlü
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Fatema
F
Al-Salmi
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Andrew H
AH
Crosby
D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics; D035781:Siblings; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D055815:Young Adult
C438187:ALS2 protein, human; D020662:Guanine Nucleotide Exchange Factors; D022821:RNA Splice Sites
ALS2 gene; IAHSP