Journal Article

FZJ-2021-02118

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png VPS13D : One Family, Same Mutations, Two Phenotypes

Petry-Schmelzer, J. N. (Corresponding author) ; Keller, N. ; Karakaya, M. ; Wirth, B. ; Fink, G. R.FZJ* ; Wunderlich, G.

2021
Wiley New York, NY

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Please use a persistent id in citations: http://hdl.handle.net/2128/28691  doi:10.1002/mdc3.13232

Abstract: Here, we report two siblings with compound heterozygous variants in VPS13D but a considerable divergent phenotype highlighting the difficulties of phenotype–genotype correlation in this rare disease.A 19-year-old patient presented to our outpatient department with a five-year history of progressive gait impairment. Motor and cognitive development during childhood was described as normal. The patient visited a regular school and was able to participate in physical education until the onset of symptoms. There were no known neurologic diseases in the Caucasian family, consisting of five sisters (II.1–3, II.5, and II.6), and the patient (II.4). However, one younger sister (II.6) of the patient suffered from developmental delay and intellectual disability without further physical impairment, and the oldest sister (II.1) living separate from the family was supposed to have “gait problems”.

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Contributing Institute(s):

1. Kognitive Neurowissenschaften (INM-3)

Research Program(s):

1. 525 - Decoding Brain Organization and Dysfunction (POF4-525) (POF4-525)

Appears in the scientific report 2021

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Database coverage:
; ; Clarivate Analytics Master Journal List ; DEAL Wiley ; Ebsco Academic Search ; Emerging Sources Citation Index ; PubMed Central ; SCOPUS ; Web of Science Core Collection

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