Related Experiment Video
Updated: Aug 5, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1
Antonio Orlacchio1, Toshitaka Kawarai, Fabrizio Gaudiello
1Laboratorio di Neurogenetica, Centro Europeo Di Ricerca Sul Cervello-Istituto di Ricovero e cura a Carattere Scientifico Santa Lucia, Rome, Italy. a.orlacchio@hsantalucia.it
Abstract:
We have updated the clinical description of a large Scottish pedigree, in which patients were affected by spastic paraplegia complicated by hearing impairment and persistent vomiting due to hiatal hernia inherited as an autosomal dominant trait. Using a genome-wide mapping approach, we identified a novel locus (SPG29) for this form of hereditary spastic paraplegia on chromosome 1p31.1-21.1 and narrowed it to 22.3cM between markers D1S2889 and D1S248. Sequencing of one candidate gene in the region (sorting nexin 7, SNX7), involved in several stages of intracellular trafficking and protein transport, showed no disease-causing mutations.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
09:33Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor
Published on: August 25, 2023
Related Concept Videos
Meiosis I
Karyotyping
Sex-linked Disorders
Single Nucleotide Polymorphisms-SNPs
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Huntington Disease l: Introduction