Title: TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation
Authors: Foulquier, François
Amyere, Mustapha
Jaeken, Jaak
Zeevaert, Renate
Schollen, Els
Race, Valérie
Bammens, Riet
Morelle, Willy
Rosnoblet, Claire
Legrand, Dominique
Demaegd, Didier
Buist, Neil
Cheillan, David
Guffon, Nathalie
Morsomme, Pierre
Annaert, Wim
Freeze, Hudson H
Van Schaftingen, Emile
Vikkula, Miikka
Matthijs, Gert # ×
Issue Date: Jul-2012
Publisher: American Society of Human Genetics
Series Title: American Journal of Human Genetics vol:91 issue:1 pages:15-26
Abstract: Protein glycosylation is a complex process that depends not only on the activities of several enzymes and transporters but also on a subtle balance between vesicular Golgi trafficking, compartmental pH, and ion homeostasis. Through a combination of autozygosity mapping and expression analysis in two siblings with an abnormal serum-transferrin isoelectric focusing test (type 2) and a peculiar skeletal phenotype with epiphyseal, metaphyseal, and diaphyseal dysplasia, we identified TMEM165 (also named TPARL) as a gene involved in congenital disorders of glycosylation (CDG). The affected individuals are homozygous for a deep intronic splice mutation in TMEM165. In our cohort of unsolved CDG-II cases, we found another individual with the same mutation and two unrelated individuals with missense mutations in TMEM165. TMEM165 encodes a putative transmembrane 324 amino acid protein whose cellular functions are unknown. Using a siRNA strategy, we showed that TMEM165 deficiency causes Golgi glycosylation defects in HEK cells.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Molecular Diagnosis
× corresponding author
# (joint) last author

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