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First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant.
- Source :
-
European journal of medical genetics [Eur J Med Genet] 2024 Jun; Vol. 69, pp. 104938. Date of Electronic Publication: 2024 Apr 04. - Publication Year :
- 2024
-
Abstract
- Hajdu-Cheney syndrome (HCS) is an extremely rare autosomal dominant skeletal disorder. The prevalence rate of less than 1 case per 1,000,000 newborns and only 50 cases were reported in the medical literature. HCS is characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities. HCS is caused by pathogenic variants in the NOTCH2 gene, 34th exon. We report first familial case of HCS caused by likely pathogenic variant of NOTCH2 gene c.6449delC, p.(Pro2150LeufsTer5).<br /> (Copyright © 2024 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1878-0849
- Volume :
- 69
- Database :
- MEDLINE
- Journal :
- European journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 38580081
- Full Text :
- https://doi.org/10.1016/j.ejmg.2024.104938