ID

45187

Descrizione

Principal Investigator: Yaniv Erlich, PhD, Whitehead Institute for Biomedical Research, Boston, MA, USA MeSH: Hereditary Spastic Paraplegias,Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000359 The study involves a single consanguineous Palestinian family with Hereditary Spastic Paraparesis (HSP). The affected individuals suffer from spasticity of the lower limbs and abnormal gait. Using exome sequencing and homozygosity mapping, our analysis implicated the causative mutation in the motor domain of KIF1A, a gene that functions in anterograde axonal transportation.

collegamento

dbGaP study = phs000359

Keywords

versioni (2)
  1. 19/08/22 19/08/22 - Simon Heim
  2. 12/10/22 12/10/22 - Adrian Schulz
Titolare del copyright

Yaniv Erlich, PhD, Whitehead Institute for Biomedical Research, Boston, MA, USA

Caricato su

12 ottobre 2022

DOI

Per favore, per richiedere un accesso.

Licenza

Creative Commons BY 4.0
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dbGaP phs000359 KIF1A Hereditary Spastic Paraparesis

Inglese

Eligibility Criteria

4 moduli  
Inclusion and exclusion criteria
Descrizione

Inclusion and exclusion criteria

The participants are part of a single family with HSP. The mother and the father are healthy and the two children are affected. We submit the exome sequencing of the father, mother, and one child, and the whole genome-genotyping of the two children.
Descrizione

The participants are part of a single family with HSP. The mother and the father are healthy and the two children are affected. We submit the exome sequencing of the father, mother, and one child, and the whole genome-genotyping of the two children.

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0015576
UMLS CUI [1,2]
C0037773
UMLS CUI [1,3]
C0030551
UMLS CUI [1,4]
C3898900
UMLS CUI [1,5]
C0008059
UMLS CUI [1,6]
C0221423
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Similar models

Eligibility Criteria

4 moduli
Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
Inclusion and exclusion criteria
The participants are part of a single family with HSP. The mother and the father are healthy and the two children are affected. We submit the exome sequencing of the father, mother, and one child, and the whole genome-genotyping of the two children.
Item
The participants are part of a single family with HSP. The mother and the father are healthy and the two children are affected. We submit the exome sequencing of the father, mother, and one child, and the whole genome-genotyping of the two children.
boolean
C0015576 (UMLS CUI [1,1])
C0037773 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,3])
C3898900 (UMLS CUI [1,4])
C0008059 (UMLS CUI [1,5])
C0221423 (UMLS CUI [1,6])
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