Combined TSC1 and LMX1B mutations in a single patient
| Autor: | Ola Khalifa, Nadia Al-Sakati, Zuhair N. Al-Hassnan, Khalid Al-Mane, Ameera Balobaid |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Adolescent Genetic counseling LIM-Homeodomain Proteins Tuberous Sclerosis Complex 1 Protein Pathology and Forensic Medicine Frameshift mutation Tuberous sclerosis Tuberous Sclerosis medicine Humans Child Frameshift Mutation Gene Genetics (clinical) Aged Genetics business.industry Tumor Suppressor Proteins Infant General Medicine medicine.disease Penetrance Phenotype medicine.anatomical_structure Child Preschool Pediatrics Perinatology and Child Health Epistasis Female TSC1 Anatomy business Transcription Factors |
| Zdroj: | Clinical Dysmorphology. 23:47-51 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/mcd.0000000000000025 |
| Popis: | Tuberous sclerosis complex (TSC) and nail-patella syndrome (NPS) are autosomal dominant pleiotropic disorders with full penetrance that can both involve kidneys. TSC1 and NPS genes are located on chromosome 9q3. In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes. The father, who has both disorders, has passed on TSC to three of his children, NPS to another three, and both TSC and NPS to one child. Patients carrying both mutations appear to show an additive phenotype and no obvious epistatic effects. The segregation of two dominant disorders in this family poses a challenge for genetic counseling and indicates the importance of a careful clinical and molecular evaluation for accurate risk assessment. |
| Databáze: | OpenAIRE |
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