Article
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Clinical genetics - 1 Mar 2023
Becker Aurélie, Felici Charlotte, Lambert Laëtitia, de Saint Martin Anne, Abi-Warde Marie-Thérèse, Schaefer Elise, Zix Christian, Zamani Mina, Sadeghian Saeid, Zeighami Jawaher, Seifi Tahereh, Azizimalamiri Reza, Shariati Gholamreza, Galehdari Hamid, Selig Mareike, Ding Can, Duerinckx Sarah, Pirson Isabelle, Abramowicz Marc, Clément Guillemette, Leheup Bruno, Jonveaux Philippe, Lefort Geneviève, Bronner Myriam, Renaud Mathilde, Bonnet Céline
Abstract excerpt
Bi-allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the "AP4 deficiency syndrome." Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability, postnatal microcephaly, epilepsy, and neuroimaging features. Namely, AP4M1 (SPG50) is involved in autosomal recessive spastic paraplegia 50 (MIM#612936). We report on three...
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