Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance

Author(s):
Santen, G.W.E.; Adama van Scheltema, P.N.; Peeters, C.M.P.C.D.; Steggerda, S.J.; Klumper, F.J.C.M.; Everwijn, S.M.P. (0000-0003-0653-1841)
Published
2017
Publication type
Article / Letter to editor

Abstract

Recently, Desai et al. described six subjects with deletions in the ATAD3 gene cluster (Desai et al. 2017). Most of these patients died within their first week of life and one died after 7 months, but one was still alive at 30 years of age. Harel et al. (2016) described three patients with biallellic variations in ATAD3A, one of whom died in the second week of life but the other two were alive at 24 and 26 years, respectively. For pre- and postnatal management it is important to understand why some patients die very early, whereas others seem to have a much milder clinical affect.

Date issued
2017-10-06
Language
English
Is part of
Brain
hdl
1887/117593