A Novel Mutation in the
ADAMTS10
RVOT right ventricular outflow tract
Weill–Marchesani syndrome
aortic stenosis
subaortic membrane
supramitral membrane
supravalvular pulmonary membrane
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
16 May 2023
16 May 2023
Historique:
received:
15
04
2023
revised:
11
05
2023
accepted:
15
05
2023
medline:
29
5
2023
pubmed:
27
5
2023
entrez:
27
5
2023
Statut:
epublish
Résumé
Weill-Marchesani syndrome (WMS) is a rare genetic inherited disorder with autosomal recessive and dominant modes of inheritance. WMS is characterized by the association of short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia and ectopia of the lenses, and, occasionally, heart defects. We investigated the genetic cause of a unique and novel presentation of heart-developed membranes in the supra-pulmonic, supramitral, and subaortic areas, creating stenosis that recurred after their surgical resection in four patients from one extended consanguineous family. The patients also presented ocular findings consistent with Weill-Marchesani syndrome (WMS). We used whole exome sequencing (WES) to identify the causative mutation and report it as a homozygous nucleotide change c. 232T>C causing p. Tyr78His in
Identifiants
pubmed: 37240210
pii: ijms24108864
doi: 10.3390/ijms24108864
pmc: PMC10219133
pii:
doi:
Substances chimiques
ADAMTS Proteins
EC 3.4.24.-
ADAM Proteins
EC 3.4.24.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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