TY - JOUR
T1 - Locus and allelic heterogeneity in five families with hereditary spastic paraplegia
AU - Hebbar, Malavika
AU - Shukla, Anju
AU - Nampoothiri, Sheela
AU - Bielas, Stephanie
AU - Girisha, Katta M.
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
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U2 - 10.1038/s10038-018-0523-y
DO - 10.1038/s10038-018-0523-y
M3 - Article
C2 - 30337681
AN - SCOPUS:85055092759
SN - 1434-5161
VL - 64
SP - 17
EP - 21
JO - Jinrui idengaku zasshi. The Japanese journal of human genetics
JF - Jinrui idengaku zasshi. The Japanese journal of human genetics
IS - 1
ER -