Ontology highlight
ABSTRACT:
SUBMITTER: Becker A
PROVIDER: S-EPMC10108251 | biostudies-literature | 2023 Mar
REPOSITORIES: biostudies-literature
Becker Aurélie A Felici Charlotte C Lambert Laëtitia L de Saint Martin Anne A Abi-Warde Marie-Thérèse MT Schaefer Elise E Zix Christian C Zamani Mina M Sadeghian Saeid S Zeighami Jawaher J Seifi Tahereh T Azizimalamiri Reza R Shariati Gholamreza G Galehdari Hamid H Selig Mareike M Ding Can C Duerinckx Sarah S Pirson Isabelle I Abramowicz Marc M Clément Guillemette G Leheup Bruno B Jonveaux Philippe P Lefort Geneviève G Bronner Myriam M Renaud Mathilde M Bonnet Céline C
Clinical genetics 20221202 3
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 patients with core features from three unrelated consanguineous families originating fr ...[more]