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Title:

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

Document type:
Journal Article; Research Support, Non-U.S. Gov't; Article
Author(s):
Puusepp, Sanna; Kovacs-Nagy, Reka; Alhaddad, Bader; Braunisch, Matthias; Hoffmann, Georg F; Kotzaeridou, Urania; Lichvarova, Lucia; Liiv, Mailis; Makowski, Christine; Mandel, Merle; Meitinger, Thomas; Pajusalu, Sander; Rodenburg, Richard J; Safiulina, Dzhamilja; Strom, Tim M; Talvik, Inga; Vaarmann, Annika; Wilson, Callum; Kaasik, Allen; Haack, Tobias B; Ounap, Katrin
Abstract:
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 hearin...     »
Journal title abbreviation:
Eur J Hum Genet
Year:
2018
Journal volume:
26
Journal issue:
3
Pages contribution:
407-419
Language:
eng
Fulltext / DOI:
doi:10.1038/s41431-017-0001-6
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/29343804
Print-ISSN:
1018-4813
TUM Institution:
Institut für Humangenetik; Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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