Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency

Clin Genet. 2018 Jun;93(6):1252-1253. doi: 10.1111/cge.13180. Epub 2018 Feb 8.

Authors

D Monies^{1

2}, J Anabrees³, N Ibrahim¹, H Elbardisy^{1

2}, M Abouelhoda^{1

2}, B F Meyer^{1

2}, F S Alkuraya^{1

2

4}

Affiliations

¹ Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
² Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
³ Department of Pediatrics, Arrayan Hospital, Dr. Sulaiman Al Habib Medical Group, Riyadh, Saudi Arabia.
⁴ Department of Anatomy and Cell Biology, College of Medicine, Riyadh, Saudi Arabia.

PMID: 29417556
DOI: 10.1111/cge.13180

No abstract available

Keywords: UGCG; ceramide; collodion; glucosylceramide; ichthyosis.

Publication types

Case Reports
Letter

MeSH terms

Base Sequence
Fatal Outcome
Genes, Recessive*
Glucosyltransferases / genetics*
Glucosyltransferases / metabolism
Humans
Ichthyosis / enzymology*
Ichthyosis / genetics*
Infant, Newborn
Male

Substances

Glucosyltransferases
ceramide glucosyltransferase