Locus and allelic heterogeneity in five families with hereditary spastic paraplegia

被引：7

作者：

Hebbar, Malavika ^{[1
]}

Shukla, Anju ^{[1
]}

Nampoothiri, Sheela ^{[2
]}

Bielas, Stephanie ^{[3
]}

Girisha, Katta M. ^{[1
]}

机构：

[1] Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, India

[2] Amrita Inst Med Sci & Res Ctr, Dept Pediat Genet, Cochin, Kerala, India

[3] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

来源：

JOURNAL OF HUMAN GENETICS | 2019年 / 64卷 / 01期

基金：

美国国家卫生研究院;

关键词：

INTELLECTUAL DISABILITY; MUTATION; TETRAPLEGIA; VARIANT;

D O I：

10.1038/s10038-018-0523-y

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified by exome sequencing of index cases. The cohort consists of three families with spastic paraplegia type 47 (AP4B1) with a common mutation in two families, a family with spastic paraplegia type 50 (AP4M1), and two male siblings with X-linked spastic paraplegia 2 (PLP1). This work illustrates locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

引用

页码：17 / 21

页数：5

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