BVII. Overview of Genetic Disorders Flashcards
i. Associated defects of Mendelian Disorders
- Marfan Syndrome
- Ehlers-Danlos Syndrome
ii. Associated with defects in receptor proteins
- Familial Hypercholesterolemia (FH)
iii. Associated with defects in enzymes
- Lysosomal Storage Diseases
- Tay-Sachs Disease
- Niemann-Pick Disease
- Gaucher’s Disease
- Mucopolysaccharidoses
- Glycogen Storage Diseases
- Alkaptonuria
iv. Associated with defects in proteins that regulate cell growth
- Neurofibromatosis
a) Multifactorial
b) Single Gene Disorders with non-classic inheritance - Triplet Repeat Mutation – Fragile X Syndrome
B. CYTOGENETIC DISORDERS
a) Involving autosomes
b) Involving sex chromosomes
c) Mutations in Mitochondrial genes
a) Involving autosomes
• Trisomy 21
• Trisomy 18
• Trisomy 13
• Cri-du-Chat
b) Involving sex chromosomes
• Klinefelter’s Syndrome
• XYY Syndrome
• Turner’s Syndrome
• Hermaphroditism
• Pseudohermaphroditism
c) Mutations in Mitochondrial genes
Leber’s Hereditary Optic Neuropathy
a) Genomic Imprinting ·
Prader-Willi Syndrome
Angelman’s Syndrome
is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence
genetic disorder
c) Mutations in Mitochondrial genes
mutation in one gene
monogenic disorder
mutations in multiple genes or by a combination of gene mutations and environmental factors
multifactorial inheritance disorder
by damage to chromosomes
changes in the number or structure of entire chromosomes, the structures that carry genes
● It is one of the most common inherited disorders of connective tissue.
Marfan Syndrome
● Autosomal dominant condition
Marfan Syndrome
● Cause: mutation in the FBN1 gene
Marfan Syndrome
mutations are associated with a broad continuum of physical features ranging from isolated features to a severe and rapidly progressive form in newborns.
○ FBN1
: abnormally longer than normal, dolichostenomelia, arachnodactyly, scoliosis, pectus excavatum, pectus carinatum, high palate, malocclusions
○ Bones
: angina pectoris, tachycardia, cystic medial degeneration, aortic dissection, heart murmur
○ Heart
: risk of spontaneous pneumothorax, emphysema, COPD, collapsed lung, sleep apnea
○ Lungs
: myopia or hyperopia, astigmatism, glaucoma, cataract, detachment or tear in the retina
○ Eyes
● Defect in the synthesis of collagen
Ehlers-Danlos Syndrome
: Hyper-flexible joints, Unstable joints that are prone to sprain, dislocation, subluxation and hyperextension, osteoarthritis, Chronic degenerative joint disease, Swan neck deformity of the fingers, Muscle fatigue that increases with use, hypotonia in infancy, Osteopenia, Stretchy ligaments and tendons, Tearing of tendons or muscles, Deformities of the spine, Myalgia and arthralgia
○ Musculoskeletal
: Stretchy skin with a velvety texture, Fragile skin, Easy bruising, Abnormal wound healing and scar formation, Redundant skin folds, Molluscoid pseudotumors, Subcutaneous spheroids, Fatty growths on forearms or shins, Angioplasia
○ Skin