Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship

Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship

Publication date: Oct 02, 2019

Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals. It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1 (TSC1) or TSC2 causes a protein dysfunction, hamartin and tuberin respectively, leading to mTOR signaling pathway activation, thus tumors rise on the skin but also brain, eyes, kidneys, heart. Thanks to the advent of sequencing techniques of the human genome, genes involved were found twenty years ago. Most commonly, these are de novo private mutations and autosomal dominant Mendelian transmission. About 15% of patients have a phenotype corresponding to the disease but no mutation is found. Although the initial clinical description was in 1880, publications regularly describe new signs in Tuberous Sclerosis, especially for skin. Cutaneous manifestations are important in the diagnostic criteria of the disease and often even the first sign of appeal. However, no data is available on the relationship between genotype and dermatological phenotype. Therefore the investigator intend to review all cutaneous finding in Tuberous Sclerosis patient and try to link with their mutation.

Concepts Keywords
Autosomal Dominant Intellectual disability
Brain Tuberous sclerosis
Dermatological Autism
Genetic Autosomal dominant disorders
Genetic Disorder Rare diseases
Genome Medicine
Genotype Health
Hamartin Branches of biology
Kidneys Rare genetic disorder
Mendelian Dysfunction
Montpellier Phacomatoses
MTOR Signs Tuberous Sclerosis
Mutation Geneticin genetic processing
Phenotype TSC2
Sequencing TSC1
TSC1 MTOR
TSC2 Genotype
Tuberin
Tuberous Sclerosis
Tuberous Sclerosis Complex

Semantics

Type Source Name
disease MESH Tuberous Sclerosis
disease DOID Tuberous Sclerosis
disease MESH genetic disorder
disease MESH phacomatoses
gene UNIPROT TSC1
gene UNIPROT TSC2
pathway BSID mTOR signaling pathway
disease MESH tumors
disease MESH Diagnosis
drug DRUGBANK Geneticin

Original Article

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