Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome.
We report three novel deletions of the SGCE gene in three families with myoclonus-dystonia (M-D) syndrome in Taiwan. Their clinical characteristics included: early onset, dominant myoclonus and dystonia in the neck, trunk and upper limbs. By direct sequencing of the SGCE gene coding regions, we identified a small heterozygous deletion (c.842delA) in exon 7 of the three sibs and asymptomatic father in the first family and an eight-base heterozygous deletion (c.524_531del) in exon 5 of the mother and a daughter in the second family. Using multiple ligation-dependent probe amplification (MLPA), a large heterozygous deletion of 2-11 exons was identified in the father and a son in the third family which was undetected by initial sequencing. It is the largest intragenic deletion ever reported. In conclusion, we have identified three novel mutations of SGCE in the respective three M-D families. The large deletion was responsible for one third of these M-D families which might implicate an important contribution to Taiwanese M-D syndrome. We suggest that the contribution of large deletion should be further verified in a large cohort of patients with M-D syndrome in Han Chinese.
Huang
Chia-Ling
CL
Department of Neurology, Saint Paul's Hospital, Chang Gung University, Taoyuan, Taiwan.
Lan
Min-Yu
MY
Chang
Yung-Yee
YY
Hsu
Chia-Yu
CY
Lai
Szu-Chia
SC
Chen
Rou-Shayn
RS
Chang
Hsiu-Chen
HC
Lu
Chin-Song
CS
Wu-Chou
Yah-Huei
YH
D000328:Adult; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics / Q000503:physiopathology; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D049031:Sarcoglycans / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D013624:Taiwan / Q000453:epidemiology / Q000208:ethnology
C526572:SGCE protein, human; D049031:Sarcoglycans