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Tuberous sclerosis in a patient from Nigeria.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Aug; Vol. 179 (8), pp. 1423-1425. Date of Electronic Publication: 2019 May 29. - Publication Year :
- 2019
-
Abstract
- Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome characterized by mostly benign tumors of the brain, skin, heart, kidney, and eye. Aberrations in the genes TSC1 and TSC2 which encode hamartin and tuberin, respectively, cause TSC. Because disease manifestations develop over time, early diagnosis and intervention are imperative for patients. TSC is not well described in patients from sub-Saharan Africa or of black African ancestry. Here, we report on a 4-year-old Nigerian boy with skin lesions and cardiac anomalies associated with TSC. Furthermore, we note that in areas with limited resources for genetic diagnoses, the common skin manifestations found in TSC may be especially useful clinical markers.<br /> (© 2019 Wiley Periodicals, Inc.)
- Subjects :
- Angiofibroma diagnosis
Angiofibroma pathology
Child, Preschool
Gene Expression
Humans
Male
Myocardium metabolism
Myocardium pathology
Nigeria
Rhabdomyoma diagnosis
Rhabdomyoma pathology
Skin metabolism
Skin pathology
Tuberous Sclerosis diagnosis
Tuberous Sclerosis pathology
Exome Sequencing
Angiofibroma genetics
Mutation
Rhabdomyoma genetics
Tuberous Sclerosis genetics
Tuberous Sclerosis Complex 1 Protein genetics
Tuberous Sclerosis Complex 2 Protein genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 179
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 31140686
- Full Text :
- https://doi.org/10.1002/ajmg.a.61194