Science Quiz / Genetics Block 8c

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Can you name the Genetics Block 8c?

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Microdeletion 7q11.23; elastinopathy--> arterial problems; overfriendly, dissociation b/t drawing and language; Hypercalcemia
Does NOT detect point mutations, triplet repeat expansions, methylation abnormalities, balanced rearrangements
This phase II enzyme normally degrades irinotecan via glucuronidation; Slower = more toxicity
Teratogen- Causes hypotension, renal tubular dysplasia--> oligohydramnios, skull ossification defects; used as anti-HTN
AR mutation of SMN1 results in loss of function of neuronal apoptosis inhibitor protein--> degeneration of anterior horn MNs; Muscle bx: group hypertrophy and atrophy'Baby just stares back at you'
Maternal condition--> microcephaly, MR, cardiac defects 2/2 metabolic abnormality in mother and build up of a substrate;Child does NOT have PKU
MCC of SCD in atheletes; 1/500 persons, 2/2 multiple genes that encode sarcomeric proteins of the contractile unit of cardiac muscle
X-linked triplet repeat premutation of FMR1; causes early cessation of menses in female carrier. ALTERED RNA FUNCTION
AR: hearing loss + thyroid nodule
MCC of dementia; A/w dosage increase of amyloid, which is coded on chromosome 21. 25% of cases are familial; Early-onset familial is linked to PS1, PS2, and APP.
AD triplet repeat on chr 4 w/ anticipation, age-dependent, and triplet-repeat dependent penetrance. GOF. Regression of caudate-> chorea, athetosis, dementiaC/C with myotonic dystrophy- MD affected child will be from mom, HD affected child will be from dad; Teenage form shows more rigidity and cerebellar symptoms
Collagen: Pro alpha 2 chain is coded for on which chromosome?Point mutation- 1/2 normal amt of type I collagen
AD: hearing loss + branchial cleft, preauricular pits, and unilateral renal agenesis
AD mutation in several genes (PTPN11 50%, SOS1, RAF1, KRAS, NRAS, BRAF); PPW pulmonary valve stenosis, dysmorphic features (inverted triangular face, curly hair, webbed neck) + dev
PPW multiple congenital anomalies; Defect in 7-dehydrocholesterol reductase (biochemical diagnosis); 2,3 toe syndactyly, upturned nose; ARNOT a chromosomal abnormality
Maternal condition--> fetal macrosomia and polycythemia, neural tube defects, holoprosencephaly, or sacral agenesis
Gain of function mutation of FGFR3 (TM domain) that inhibits chondrocyte proliferation; 100% penetrance (AD or 80% de novo, a/w APA); PPW short stature, rhizomelia, trident handsExperimental treatment: CNP (C-natriuretic peptide)--> skeletal growth
Qualitative defect in collagen synthesis; point mutation; PPW dx after childhood, variable sclera; Mild (but not mildest) of the 4 types
AR def of glucocerebrosidase, (degrades a complex lipid in lysosomes); HSM, aseptic necrosis of femur, BM shows lipid-laden MPs; Type I (mild), Type II (infant, lethal), Type III (Tx: enzyme replacement (mannose6P target) or substrate reduction; 4 genes common in Jews, 7 more common in general population
AD mutation of type V collagen; PPW hyperextensible skin and joints; can have history of premature birth 2/2 PROMType I has problems in the womb
Differentiation of ovary vs. testis at __ weeks
Genetically heterogeneous causes of myelin OR axon abnormalities. MC is PMP22 (17) microdeletion (NAHR b/t LCRs in meiosis)-> demyelination and atrophy, loss of DTRs; MCC of genetiThe reciprocal is HNPP, a microdeletion of PMP22
Teratogen- Causes growth retardation, facial and nail defects, CNS defects, and cardiac defects (ASD, VSD); Symptoms depend on timing of exposure
X-linked mutation that leads to abnormal quality or quantity of dystrophin; Milder course than duchenne; Dilated cardiomyopathy causes 50% of deathsPreserved function of neck flexors
Mutations in C282Y or H63D are common in hereditary form of:'bronze diabetes'
AR mutation of PKHD1 (fibrocystin/polyductin) (abbrev)
Qualitative defect in collagen synthesis; point mutation; PPW short stature, recurrent painful fractures, respiratory insufficiency; Severe (but not most severe) of the 4 types
Most impt gene for male development
CYP2D6 metabolizes many drugs, and converts codeine into stronger form morphine. T/F?
Dosage sensitive sex reversal on chromosome Xp (duplication = M to F sex reversal)Complicated!
Trisomy- Seizures, holoprosencephaly, malformed eyes, iris coloboma, cleft lip, ASD, VSD;75% 2/2 non-disjunction; 20% 2/2 Rob translocation
This phase II enzyme normally degrades 6-MP via methylation; Slow = inc toxicity
Congenital infection--> intracranial calcifications, microcephaly
Aberrant methylation of MeCP2 leads to dysregulation of other genes in neurons (epigenetics); Causes repetitive hand wringing movements + acquired microcephaly in girlsCan be de novo mutation/microduplication (99%) or X-linked dominant mutation of MeCP2 gene on X chromosome; Lethal in males (or neonatal encephalopathy in XXY)
X-linked enzyme deficiency leading to inability to regenerate NADPH: hemolysis after taking oxidant drugs (black american males) or fava beans (white mediterranean males)
High-pitched mewing, minor facial abnormalities, MR5p deletion
AD mutation of fibrillin gene (variable expressivity), or 30% de novo mutations; PPW CV defects (aortic dilation, dissection), tall stature (long arms, fingers), dural ectasia, and
Gain of function mutation of FGFR3 (Ig or TK domain); Lethal
Quantitative defect in collagen synthesis; null allele of alpha 1 chain; PPW blue sclera, hearing loss, cardiac defects, and fractures; Mildest of the 4 types
AD mutation of PKD1 or PKD2 (abbrev)
PPW ambiguous genitalia, testes present, 46 XY; defect in receptor
Crouzon, Apert, Pfeiffer, Jackson-Weiss syndrome are all examples of craniosynostoses (early closure of sutures); They have an AD mutation in:Pfeiffer- 1; Crouzon, Apert, Pfeiffer, Jackson-Weiss- 2
PPW ambiguous genitalia, testes present, 46 XY; Virilization at puberty; defect in enzyme
MCC mental retardation; Hypotonia, ALL, AML, Hirschprung, duodenal atresia, Alzheimer's; MC 2/2 non-disjunction, but can be Robertsonian translocation; Life expectancy
Primordial germ cells migrate to gonadal ridge at __ weeks
Teratogen- Causes CNS anomalies, craniofacial defects, and cardiac defects; used to treat acne
Teratogen- Causes agenesis of limbs; used as anti-multiple myeloma, unknown mechanismOnly teratogenic between 3-5 weeks
AD mutation of type III collagen; PPW translucent skin, normal joints; risk of rupture of aorta, distal colon, or uterus; Short lifespanType IV has problems with a baby in their womb
AD; MC inherited form of long QT; NOT a/w hearing lossavoid drugs that prolong QT
This enzyme normally degrades ACh (or succinylcholine used for surgical muscle relaxation); Lower activity = longer paralysis post-op
Qualitative defect in collagen synthesis; point mutation; PPW soft calvarium, beaded ribs, bowed legs, fatal in-utero fractures; most severe of the 4 types
Screen all children with AR non-syndromic hearing loss for this gene:Causes 20% of congenital hearing loss; 50% of AR non-syndromic hearing loss; 3% carrier rate
Opposite of Williams; Autistic behavior
Presence of 9p21 variant is a/w increased or decreased risk of CAD?
AR: hearing loss + long QT (SCD)avoid drugs that prolong QT
CYP3A4 encodes enzymes that metabolize 40% of all drugs. T/F?
Congenital infection--> limb hypoplasia
Macroglossia and normal intel; Gene at 11p15.5 is paternally expressed, maternally imprinted. Maternal mutation (de-inactivated), paternal duplication, or UPD is the causeAlso a/w adrenocortical tumors, nephroblastomas, hepatoblastomas
AD: hearing loss + eye and skin abnormalities
Prenatal and postnatal growth deficiency; F>M; Triangular face, clenched hands, rocker bottom feet; VSD, ASD, hypertonia, seizures; Life expectancy
XLR mutation of ornithine transcarbamoylase (OTC) gene; Affects young boys or older girls, with urea toxicity symptoms + resp alkalosis; Dx: High NH3, glutamine and low citrullineTx: hemodialysis; IV benzoate/phenylacetate; IV arginine; IV dextrose/insulin; Chronic- liver transplant; oral phenylbutyrate or citrulline/arginine
Congenital infection--> cardiac defects, cataractsHappens when mother is infected for first time while pregnant
AR mutations in HEXA gene; Lipid storage disease, accumulation of GM2; Infantile progressive neurodegeneration, becomes floppy; Cherry red spot; No HSMTx: supportive, maybe substrate deprivation or cord blood transplant; Life expectancy
AR: hearing loss + retinitis pigmentosa
This phase II enzyme normally degrades INH and hydralazine via acetylation; Slow = INH toxicity or drug-induced lupus (hydralazine)
Teratogen- Causes facial features (wide set eyes, anterior fontanelle, hypotelorism) and hypoplastic fingernails; used as an anti-seizure drugSusceptibility depends on fetal pharmacokinetics (activity of epoxide hydrolase)
AD mutation of this gene encoding Ca channel on SR leads to malignant hyperthermia after using inhaled anesthetics (halothane) or depolarizing NMJ blockers (succinylcholine)Tx with dantrolene
F patient p/w primary amenorrhea, testes present, Mullerian structures absent, 46 XY; XLR
X-linked triplet repeat mutation of FMR1 causes hypermethylation and inactivation of FMR1 promoter (LOF); MCC of inherited form of mental retardation
Short girl with broad neck; NOT a/w AMA, 100% paternal non-disjx; lymphatic problems, coarctation of aorta, horseshoe kidneys, hypothyroidism, streak gonadsMCC of spontaneous abortion in 1st trimester
X-linked mutation that leads to complete absence of dystrophin expression; Progressive proximal symmetric muscle weakness in children and mild intellectual disabilityDilated cardiomyopathy causes 20% of death (most die 2/2 diaphragm failure before the heart can get that bad)
Drug used to treat osteogenesis imperfecta; Side effect- osteonecrosis of the jaw
Deletions at 22q11.2--> weak or cleft palate, long face w/ prominent nose, cardiac abnormalities (TOF, TA)
Tall, eunuchoid stature, gynecomastia, dec IQ; 50/50 maternal/paternal nondisjx
22q11.2 deletion: defect of development in 3rd and 4th pharyneal pouches and 4th branchial arch. Thymus and parathyroid hypoplasia; heart defects (TOF, TA), infx's, seizures, ADDDysmorphic features: micrognathia, bulbous tip of nose, low set ears
AR mutation of Phe hydroxylase; developmental delay, MR, growth retardation, seizures, musty body odor, fair skin, eczema; Treatment is dietary (Low Phe for life, LNAA, Sapropterin
X-linked mutation that leads to abnormal dystrophin in cardiac muscle, with no skeletal muscle involvementMales- early onset, fast progression; Females- later onset, slower progression
Teratogen- Causes skeletal and cartilage anomaly (early exposure) or neonatal hemorrhage (late exposure); used as an anti-coagulant
X-linked triplet repeat premutation of FMR1; causes late onset tremor and ataxia in male or female carrier. ALTERED RNA FUNCTION
Congenital infection--> retinitis
MCC of ambiguous genitalia; 21-Hydroxylase deficiency (CYP21 gene); AR, test for 17-hydroxyprogesterone levelsCan treat females in utero with dexamethasone (only 1/8 of pregnancies!)
Drug that is metabolized by CYP2C9 in liver (P-kinetics) and inhibits VKORC1 (P-dynamics) to achieve anticoagulation
Squashed face, prognathism, MR, seizures, inappropriate laughter; 70% maternal 15q microdeletion; 5% paternal UPD of 15q; 5% imprinting center mutation; 10% UBE3A mutation
AD triplet repeat mutation of DMPK gene (19) causes altered RNA function, multisystem disorders; Classic- myotonia, cardiac conduction defects, DM, cataracts; Congenital- floppy baCongenital form only comes from an affected mother… who knows why
Collagen: Pro alpha 1 chain is coded for on which chromosome?Null allele- 1/2 normal amt of type I collagen; point mutation- 1/4 normal amt of type I collagen
Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes
Child w/ hypotonia and poor feeding; Adult with obesity + OCD; 70% 2/2 paternal 15q microdeletion; 25% 2/2 maternal uniparental disomy of 15q; 5% imprinting center mutation

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