DEGS1 -related leukodystrophy: a clinical report and review of literature.

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Abstract

Leukodystrophies are a heterogeneous group of disorders affecting the white matter of the central nervous system, with or without affecting the peripheral nervous system. Biallelic variants in DEGS1 , coding for desaturase 1 (Des1) protein, were recently reported to be associated with hypomyelinating leukodystrophy (HLD), a subclass of leukodystrophies where the formation of the myelin sheath is affected.

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Journal

Journal ID (iso-abbrev): Clin Dysmorphol

Title: Clinical dysmorphology

Publisher: Ovid Technologies (Wolters Kluwer Health)

ISSN (Electronic): 1473-5717

ISSN (Print): 0962-8827

Publication date (Electronic): Jul 01 2023

Volume: 32

Issue: 3

Affiliations

[1 ] Lee Kong Chian School of Medicine, Nanyang Technological University.

[2 ] Neurology Service, Department of Paediatrics, KK Women's and Children's Hospital.

[3 ] SingHealth Duke-NUS Paediatric Academic Clinical Programme.

[4 ] Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital.

[5 ] SingHealth Duke-NUS Genomic Medicine Centre.

[6 ] SingHealth Duke-NUS Institute of Precision Medicine.

[7 ] Cardiovascular and Metabolic Disorders Programme, Duke-NUS Medical School.

[8 ] KK Research Centre, KK Women's and Children's Hospital.

[9 ] Division of Nursing - Nursing Clinical Services, Genetics Specialty Nurse, KK Women's and Children's Hospital, Singapore, Singapore.

Article

Publisher Item ID: 00019605-202307000-00002

DOI: 10.1097/MCD.0000000000000457

PubMed ID: 37195341

SO-VID: 17f40fc8-dc19-41f6-8f65-a20d3b7ed303

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