Genetic Syndromes 2
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- What type of inheritance is Achondroplasia?
- (Dwarfism): Autosomal Dominant (caused by de novo mutations in germline mosaicism or advanced paternal age)
- What is mutated gene in Achondroplasia
- FGFR3 gene mutation: Transmembrane Tyrosine Kinase Receptor
- What has the phenotype Prenatal onset, Rhizomelic short stature, megalenchephaly, and Spinal cord compression?
- Phenotype of Achondroplasia (dwarfism)
- What 2 genes are affected in hereditary Breast and Ovarian Cancer?
- BRCA 1 and 2
- What is the inheritance pattern for the BRCA 1 and 2 genes?
- Autosomal dominant with incomplete penetrance. (Tumor suppression Gene, Two-Hit mutation)
- What is the phenotype of Mylogenous Leukemia?
- Leukemia: Leukocytosis, splenomegaly, fatigue, Blast Crisis fatal;
- What is the translocated chromosome in Chronic Myelogenous Leukemia?
- Philadelphia Chromosome
- What is a Philadelphia Chromosome?
- Translocation between chromosome 9 and 22 affecting the ABL and BCR gene regions. Causes Chronic Myelogenous Leukemia
- What is the inheritance pattern for Chronic Myelogenous Leukemia?
- Somatic mutation and can not be inherited
- What is the inheritance pattern for Cystic Fibrosis?
- Autosomal Recessive
- What gene is affected by Cystic Fibrosis?
- CFTR gene on chromosome 7q31 which codes for a protein that is a regulated CL- channel located in the apical membrane of the epithelial cells.
- What is the most common mutation allele for the CF gene?
- del F508
- What is included in the phenotype for cystic fibrosis?
- Pulmonary disease, pancreatic insufficiency, sweat chloride, and neonatal onset.
- What is the inheritance for Duchenne Muscular Dystrophy?
- X-linked recessive inheritance (de novo mutation)
- What is the genetic mutation for duchenne muscular dystrophy?
- DMD Mutation (deletions and duplications) which normally encodes for the protein dystrophin.
- What is a positive Gower sign and what syndrome is it associated with?
- This is a specific getting up routine in which the child uses the upper extremity to help himself. Suggests severe impairment of lower extremity muscles. Associated with Duchenne's Muscular dystrophy.
- What type of gene is contributes to Familial Adenomatous Polyposis (FAP)?
- A Tumor Suppression gene mutation is associated with this cancer. Specifically the APC tumor suppressor gene.
- What is the inheritance pattern for familial adenomatous polyposis (FAP)?
- autosomal dominant (Two-hit mutation)
- What is the phenotype for familial adenomatous polyposis?
- an enormous amount of polyps in the colon and colorectacl cancer.
- What type of inheritance does Familial hypercholestrolemia have?
- autosomal dominant, with environmental modifiers
- Where is the mutation for familial hypercholesterolism?
- Mutation in the LDL Receptor mutation causes this disorder of cholesterol and lipid metabolism.
- What is the phenotype for familial hypercholesterolism?
- hypercholesterolemia, atherosclerosis, Xanthomas, Arcus cornea
- What is the phenotype for Fragile X syndrome?
- mental retardation, dysmorphic facies, male macroorchidism (abnormally large testes)
- How is Fragile X Syndrome inherited?
- X-Linked recessive
- What is the mutation associated with Fragile X Syndrome?
- FMR1 Mutation which is a triplet repeat expansion with hypermethylation leading to loss of expression.
- What is the inheritance pattern for hemophilia?
- X-Linked recessive disorder
- What is the mutation associated with hemophilia A and B?
- F8C or F9 mutation (factor 8 or 9) [del, ins, point mutations, inv]
- What is the phenotype for hemophilia?
- Bleeding diathesis, hemarthroses, hematomas
- What is a curative therapy for Chronic myelogenous Leukemia?
- allogeneic bone marrow transplantation
- What type of cancer gene contributes to chronic myelogenous leukemia?
- oncogene. Specifically the BCR-ABL (fusion protein) oncogene
- What type of gene contributes to hereditary nonpolyposis colon cancer and which gene specifically? (of the three types of genes contributing to cancer)
- This is a DNA mismatch repair gene cancer. Specifically MSH2 and MSL1 among others.
- What type of inheritance pattern does hereditary nonpolyposis colon cancer have?
- Autosomal dominant with incomplete penetrance
- What phenotypes are associated with Hereditary Nonpolyposis Colon Cancer?
- Has variable expressivity. Colorectal cancer with increased risks of endometrial, stomach, biliary tract and other cancers.
- What is the inheritance pattern for Huntington Disease?
- Autosomal Dominant
- What is the phenotype for Huntington disease?
- The phenotype for this neurodegenerative disease includes motor, cognitive, psychiatric abnormalities
- What mutation is Huntington's Disease caused by?
- the HD mutation is a triplet repeat expansion.
- How is Marfan Syndrome inherited?
- Autosomal dominant
- What mutation is associated with the connective tissue disorder, Marfan Syndrome?
- Mutation in Fibrilli-1 gene
- What is the phenotype for Marfan Syndrome
- Multisystem: skeletal (scoliosis, disproportionately tall, joint laxity); ocular (extopia lentis, flat corneas) cardiovascular (mitral valve prolapse, aortic problems); pulmonary (spontaneous pneumo-thorax and apical blebs); skin (striae atrophicae, recurrent herniae); dural (lumbosacral extasia)...phenotypes consistent within families but severities vary.
- What is the major cause of premature death for Marfan Syndrome?
- heart failure
- What is the genetic cause of Miller Dieker Syndrome and how is this diagnosed?
- hemizygous deletion on Chromosome 17p13 (LIS 1 gene) and diagnosed via FISH
- What is the phenotype for Miller-Dieker Syndrome?
- Lissencephaly (smooth-brain); facial dysmorphism, global mental deficiency, early death, seizures
- How is Myclonic Epilepsy with Ragged-red Fibers inherited?
- Matrilineal, mitochondrial DNA
- What is the phenotype associated with Myclonic Epilepsy with Ragged-red Fibers?
- dementia, myopathy, myclonic seizures, ataxia, deafness.
- How is retinoblastoma inherited?
- Autosomal Dominant
- What type of gene contributes to retinoblastoma?
- tumor suppressor gene (Rb mutation); follows two hit mechanism
- What typically differentiates sporadic from familial retinoblastoma?
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Familial- Bilateral, multiple tumors, early onset (w/in first year), in germline
Sporadic- Unilateral, single tumor, later onset - What is the phenotype for Sex Reversal?
- Sterility, reduced secondary sexual features, unambiguous genitalia
- What is the genetic basis for Sex Reversal?
- Chromosomal or Y-Linked inheritance (caused by an SRY on an X chromosome) mutation, deletion or translocation.
- How can Sex Reveral be diagnosed?
- FISH
- How is Tay-Sachs Disease inherited and what population is it associated with?
- Autosomal Recessive in Ashkenazic Jewish population
- What is the mutation causing Tay-Sachs disease?
- HEXA mutation affecting ganglioside metabolism
- What is the phenotype for Tay-Sachs disease?
- Neurodegeneration, retinal Cherry-redspot, psychosis
- How is thrombophilia inherited?
- Autosomal Dominant
- What genes are mutated in thrombophilia
- There is a gain of function for the FV gene and a loss of function of the PROC gene
- What is the phenotype for Thrombophilia?
- deep vein thrombosis (blood clot)
- What event leads to Turner Syndrome?
- X monosomy and variants. Due to nondisjunction
- What is the phenotype for Turner Syndrome?
- short stature, ovarian dysgenesis, sexual immaturity, congenital lymphedema, infertility, web neck in adults, coarctation of aorta
- What treatment is involved with Turner Syndrome?
- parent counseling, growth hormone, estrogen and progesterone
- What other disorder is associated with the same chromosomal mutation as Prader-Willi Syndrome and how do these two differ genetically?
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Angelman Syndrome- The absence of maternally derived 15q11-q13 (by maternal del of 15q11-q13, or paternal uniparent disomy of chromosome 15s)
Prader-Willi- the absence of paternally derived 15q11-q13. (by paternal del, or maternal uniparental disomy of chromosome 15s) - What is the phenotype for Prader Willi Syndrome
- infantile feeding difficulties, hyperphagia, obesity, hypotonia, cognitive impairment, sterility, dysmorphism
- What is the major cause of morbidity for the Prader-Willi syndrome?
- Obesity including cardiopulmonary disease and type 2 diabetes mellitus