Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder.
BACKGROUND
The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarity in clinical and pathological features of cat and human SMA may give an insight into possible similarity of the genetic etiology.


METHODS
In this study, we screened for a mutation in LIX1 using direct DNA sequencing in our SMA and/or SMA-like patients who retained SMN1. A total of 33 patients were enrolled in this study, of which 22 were Japanese and 11 were Malaysians. All these patients possessed at least two copies of SMN1.


RESULTS
We did not identify any pathogenic mutations in the coding regions or splice sites of LIX1 in the patients. In addition, we described a polymorphism within LIX1 intron 3, c.387+107A>T. We found that A-allele is significantly more frequent in SMA patients compared to normal individuals.


CONCLUSIONS
Molecular genetic analysis of our SMA and/or SMA-like patients suggests that LIX1 is not associated with the development of their disorders. However, the number of patients analyzed in this study was very limited, and a larger study with bigger sample size is needed to confirm this result.
Sasongko
Teguh Haryo
TH
Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia.
Gunadi
Yusoff
Surini
S
Atif
Amin Baig
AB
Fatemeh
Hayati
H
Rani
Abdulqawee
A
Marini
Marzuki
M
Ab Aziz
Che Badariah
CB
Zabidi-Hussin
Z A M H
ZA
Nishio
Hisahide
H
Zilfalil
Bin Alwi
BA
D044466:Asian People / Q000235:genetics*; D000071183:Autophagy-Related Proteins; D001483:Base Sequence; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007564:Japan; D008296:Malaysia; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000208:ethnology / Q000235:genetics*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D016601:RNA-Binding Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics
D000071183:Autophagy-Related Proteins; C530882:Lix1 protein, human; D016601:RNA-Binding Proteins; D055533:Survival of Motor Neuron 1 Protein