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- Title
H syndrome presenting with sinus of valsalva aneurysm and possible founder mutation (p.Arg134cys) in Indian patients.
- Authors
Amalnath, Deepak; Lingala, Rajeshwari; S Subrahmanyam, D
- Abstract
The article informs about H syndrome, a multisystem genodermatosis caused by mutations in the SLC29A3 gene, and presents a case of a 48-year-old male with H syndrome exhibiting features such as hyperpigmented skin patches, hypertrichosis, and a sinus of Valsalva aneurysm. Topic include Genetic testing revealed a homozygous missense variation (p.Arg134Cys) in the SLC29A3 gene, which has been previously reported only in Indian patients, suggesting a possible founder mutation in this population.
- Subjects
ANEURYSM diagnosis; DIAGNOSIS of diabetes; SKIN disease diagnosis; GENETIC disorder diagnosis; PHYSICAL diagnosis; X-rays; CARDIAC surgery; GENETIC mutation; PHOTON absorptiometry; SEQUENCE analysis; DEAFNESS; DYSPNEA; SINUS of valsalva; ROUTINE diagnostic tests; AORTIC valve insufficiency; ANEURYSMS
- Publication
Indian Journal of Dermatology, 2023, Vol 68, Issue 3, p344
- ISSN
0019-5154
- Publication type
Article
- DOI
10.4103/ijd.ijd_200_23