Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
Journal
Clinical dysmorphology
ISSN: 1473-5717
Titre abrégé: Clin Dysmorphol
Pays: England
ID NLM: 9207893
Informations de publication
Date de publication:
01 Apr 2021
01 Apr 2021
Historique:
pubmed:
9
12
2020
medline:
25
12
2021
entrez:
8
12
2020
Statut:
ppublish
Résumé
Our study aims to delineate the syndromology of Hunter syndrome (MPSII), by presenting three patients with different clinical courses, caused by different genetic mechanisms. Single-nucleotide variants (SNV) or small deletions encompassing the iduronate-2-sulfatase (IDS) gene are identified in the majority of affected individuals, while deletion of contiguous genes or whole IDS gene (described herein) has been reported rarely, mainly in patients with a severe Hunter syndrome presentation. There is; however, lack of reliable genotype-phenotype correlation, especially regarding anthropometric parameters, and thus our understanding of MPSII pathophysiology is not complete. On the basis of our observations, we would like to draw attention to the fact that neurological manifestations observed in patients with contiguous gene deletions, encompassing the IDS gene, may significantly differ from those observed in SNV. The phenotype is; however, difficult to predict and depends on the type (deletion/duplication), size (small/large) of aberration, and gene content. Moreover, it also has implications for genetic counseling, and recurrence risk in those families differs from the usual situation and must be clarified by parental chromosomal studies.
Identifiants
pubmed: 33290290
pii: 00019605-202104000-00002
doi: 10.1097/MCD.0000000000000344
pmc: PMC8868176
doi:
Substances chimiques
Glycoproteins
0
IDS protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
76-82Informations de copyright
Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.
Références
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