A complex structural variant near
Optical genome mapping
SHFM2
SOX3
Structural variation
Whole genome sequencing
X-linked split-hand/foot malformation
Journal
HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885
Informations de publication
Date de publication:
13 07 2023
13 07 2023
Historique:
received:
13
12
2022
accepted:
13
04
2023
medline:
24
5
2023
pubmed:
22
5
2023
entrez:
22
5
2023
Statut:
epublish
Résumé
Split-hand/foot malformation (SHFM) is a congenital limb defect most typically presenting with median clefts in hands and/or feet, that can occur in a syndromic context as well as in isolated form. SHFM is caused by failure to maintain normal apical ectodermal ridge function during limb development. Although several genes and contiguous gene syndromes are implicated in the monogenic etiology of isolated SHFM, the disorder remains genetically unexplained for many families and associated genetic loci. We describe a family with isolated X-linked SHFM, for which the causative variant could be detected after a diagnostic journey of 20 years. We combined well-established approaches including microarray-based copy number variant analysis and fluorescence
Identifiants
pubmed: 37216008
doi: 10.1016/j.xhgg.2023.100200
pii: S2666-2477(23)00032-5
pmc: PMC10196709
doi:
Substances chimiques
SOX3 protein, human
0
SOXB1 Transcription Factors
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
100200Informations de copyright
© 2023 The Author(s).
Déclaration de conflit d'intérêts
The authors declare no competing interests.
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