PuSH - Publication Server of Helmholtz Zentrum München: Compound heterozygous <em>SPATA5</em> variants in four families and functional studies of SPATA5 deficiency.

Information

Clues to quality of journals

Open Access Policy of Helmholtz Association 2016

CC Licencences

Publication Metrics

Navigation

Home

Deutsch

EVA: Electronic Publishing

New EVA Application

Research

Advanced Search

Browse by ...

... HMGU-Authors/Consortia

... Organizational Structure

... Journal

... Publication Type

... Research Data

... Arbeitsgruppen

... Publication Year

Publication overview

Statistics

Statistics (last 5 years)

OA Publications

Publish

Submit Publication

Import publication from...

...EVA

Report missing publication

Highlights

Support & Contact

Contact persons

Help

Data protection

Helmholtz Open Science

JANE Journal Estimator

SHERPA/RoMEO

DOAJ

Export:

Text

Endnote (RIS) BIB

BibTeX

Puusepp, S.* ; Kovács-Nagy, R.* ; Alhaddad, B.* ; Braunisch, M.C.* ; Hoffmann, G.F.* ; Kotzaeridou, U.* ; Lichvarova, L.* ; Liiv, M.* ; Makowski, C.* ; Mandel, M.* ; Meitinger, T. ; Pajusalu, S.* ; Rodenburg, R.J.* ; Safiulina, D.* ; Strom, T.M. ; Talvik, I.* ; Vaarmann, A.* ; Wilson, C.* ; Kaasik, A.* ; Haack, T.B. ; Õunap, K.*

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.

Eur. J. Hum. Genet. 26, 407-419 (2018)

Publ. Version/Full Text

Research data

DOI

	Open Access Hybrid

Abstract
Metrics
Extra information

Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, cortical visual impairment and microcephaly. SPATA5 protein localizes predominantly in the mitochondria and is proposed to be involved in mitochondrial function and brain developmental processes. However no functional studies have been performed. This study describes five patients with psychomotor developmental delay, microcephaly, epilepsy and hearing impairment, who were thought clinically to have a mitochondrial disease with subsequent whole-exome sequencing analysis detecting compound heterozygous variants in the SPATA5 gene. A summary of clinical data of all the SPATA5 patients reported in the literature confirms the characteristic phenotype. To assess SPATA5' s role in mitochondrial dynamics, functional studies were performed on rat cortical neurons. SPATA5-deficient neurons had a significant imbalance in the mitochondrial fusion-fission rate, impaired energy production and short axons. In conclusion, SPATA5 protein has an important role in mitochondrial dynamics and axonal growth. Biallelic variants in the SPATA5 gene can affect mitochondria in cortical neurons and should be considered in patients with a neurodegenerative disorder and/or with clinical presentation resembling a mitochondrial disorder.

Impact Factor

Scopus SNIP

Web of Science
Times Cited

Scopus
Cited By

Altmetric

3.636

1.096