To give the bases for the understanding of the main disorders with a genetic, genomic or chromosomal basis with a pediatric onset
Preliminary knowledge of:
• DNA structure and replication
• Chromosome structure and human karyotype
• Gene structure, transcription and maturation of the mRNA.
• Protein structure. Structure and function of the enzymes
• Phenotypic variation at the cellular, tissue and individual level
• Genetic polymorphisms
• Mendelian inheritance in man
• Principles of population genetics
• Mutations as cause of variability
• Gene mutations. Types, location and genetic analysis
• Molecular mechanisms of the genetic mutations and their consequences for the synthesis and structure of the proteins
• Chromosomal aneuploidies and their pathogenetic mechanism
Course unit content
Applications of Medical Genetics ot the Pediatrics: the genetic diseases with pediatric onset
1. Examples of autosomal dominant diseases:
a. Le rasopathies, definition and clinical pictures of the following specific syndromes:
i. Noonan s.
ii. Costello s.
iii. Cardio-facio-cutaneous s.
b. Examples of multisystemic diseases:
i. Neurofibromatosis type 1 (diagnostic criteria and follow-upCriteri diagnostici e follow-up)
ii. Neurofibromatosis type 2 (diagnostic criteria and follow-up)
iii. Tuberous sclerosis complex (diagnostic criteria)
c. Aortopathies, differential diagnosis among:
i. Marfan s.
ii. Vascular Ehler -Danlos s.
iii. Loeys-Dietz s.
d. Other examples of dominant multisystemic diseases:
i. Nail-Patella s.
ii. Holt-Horam s.
iv. Split Hand/Foot malformation
2. Examples of autosomal recessive diseases:
a. Cystic fibrosis: genotype/phenotype correlation and concepts about residual risk after genetic testing
b. Congenital deafness: syndromic (Usher s., Pendred s., Waardenburg s.) and non-syndromic forms
3. Examples of X-linked diseases:
a. Fragile X s.
a. Cri-du-chat s.,
b. Wolff Hirschhorn s.,
c. Di George s.,
d. Angelman s.,
e. Prader Willi s.,
f. Williams s. and its reciprocal duplication 7q 11.2,
g. Smith Magenis s.
Thompson & Thompson: GENETICS IN MEDICINE. Elsevier, Eight Edition, 2016