The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

被引：68

作者：

Bernal, S. ^{[1
,2
]}

Alias, L. ^{[1
,2
]}

Barcelo, M. J. ^{[1
,2
]}

Also-Rallo, E. ^{[1
,2
]}

Martinez-Hernandez, R. ^{[1
,2
]}

Gamez, J. ^{[3
]}

Guillen-Navarro, E. ^{[4
]}

Rosell, J. ^{[5
]}

Hernando, I. ^{[6
]}

Rodriguez-Alvarez, F. J. ^{[7
,8
]}

Borrego, S. ^{[9
,10
]}

Millan, J. M. ^{[11
,12
]}

Hernandez-Chico, C. ^{[7
,8
]}

Baiget, M. ^{[1
,2
]}

Fuentes-Prior, P. ^{[13
]}

Tizzano, E. F. ^{[1
,2
]}

机构：

[1] Hosp Santa Creu & Sant Pau, Serv Genet, Barcelona 08025, Spain

[2] CIBERER, U705, Barcelona, Spain

[3] Hosp Gen Valle Hebron, Serv Neurol, Barcelona, Spain

[4] Hosp Univ Virgen Arrixaca, Unidad Genet Med, Murcia, Spain

[5] Hosp Son Dureta, Dept Genet, Palma de Mallorca, Spain

[6] Univ Asturias, Serv Genet Hosp, Oviedo, Spain

[7] Hosp Ramon & Cajal, Unidad Genet, E-28034 Madrid, Spain

[8] CIBERER, U728, Madrid, Spain

[9] Hosp Virgen Rocio, Unidad Gest Clin Genet Reprod Med Fetal, Seville, Spain

[10] CIBERER, U702, Seville, Spain

[11] Hosp La Fe, Unidad Genet, Valencia, Spain

[12] CIBERER, Valencia, Spain

[13] Hosp Santa Creu & Sant Pau, Unitat Bases Mol Malalties, Res Inst, Barcelona, Spain

来源：

JOURNAL OF MEDICAL GENETICS | 2010年 / 47卷 / 09期

关键词：

SPINAL MUSCULAR-ATROPHY;

D O I：

10.1136/jmg.2010.079004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Homozygous mutations of the telomeric SMN1 gene lead to degeneration of motor neurons causing spinal muscular atrophy (SMA). A highly similar centromeric gene (SMN2) can only partially compensate for SMN1 deficiency. The c.859G>C variant in SMN2 has been recently reported as a positive disease modifier. We identified the variant in 10 unrelated chronic SMA patients with a wide spectrum of phenotypes ranging from type II patients who can only sit to adult walkers. Haplotype analysis strongly suggests that the variant originated from a common ancestor. Our results confirm that the c.859G>C variant is a milder SMN2 allele and predict a direct correlation between SMN activity and phenotypic severity.

引用

页码：640 / 642

页数：3

共 10 条

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The c.859G&gt;C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor