Ontology highlight
ABSTRACT:
SUBMITTER: Husain RA
PROVIDER: S-EPMC7413886 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Husain Ralf A RA Grimmel Mona M Wagner Matias M Hennings J Christopher JC Marx Christian C Feichtinger René G RG Saadi Abdelkrim A Rostásy Kevin K Radelfahr Florentine F Bevot Andrea A Döbler-Neumann Marion M Hartmann Hans H Colleaux Laurence L Cordts Isabell I Kobeleva Xenia X Darvish Hossein H Bakhtiari Somayeh S Kruer Michael C MC Besse Arnaud A Ng Andy Cheuk-Him AC Chiang Diana D Bolduc Francois F Tafakhori Abbas A Mane Shrikant S Ghasemi Firouzabadi Saghar S Huebner Antje K AK Buchert Rebecca R Beck-Woedl Stefanie S Müller Amelie J AJ Laugwitz Lucia L Nägele Thomas T Wang Zhao-Qi ZQ Strom Tim M TM Sturm Marc M Meitinger Thomas T Klockgether Thomas T Riess Olaf O Klopstock Thomas T Brandl Ulrich U Hübner Christian A CA Deschauer Marcus M Mayr Johannes A JA Bonnen Penelope E PE Krägeloh-Mann Ingeborg I Wortmann Saskia B SB Haack Tobias B TB
American journal of human genetics 20200723 2
We report bi-allelic pathogenic HPDL variants as a cause of a progressive, pediatric-onset spastic movement disorder with variable clinical presentation. The single-exon gene HPDL encodes a protein of unknown function with sequence similarity to 4-hydroxyphenylpyruvate dioxygenase. Exome sequencing studies in 13 families revealed bi-allelic HPDL variants in each of the 17 individuals affected with this clinically heterogeneous autosomal-recessive neurological disorder. HPDL levels were significa ...[more]