Science Quiz / Genetics Block 8c

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Can you name the Genetics Block 8c?

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AR: hearing loss + thyroid nodule
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
PPW ambiguous genitalia, testes present, 46 XY; Virilization at puberty; defect in enzyme
This phase II enzyme normally degrades 6-MP via methylation; Slow = inc toxicity
Teratogen- Causes hypotension, renal tubular dysplasia--> oligohydramnios, skull ossification defects; used as anti-HTN
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
Microdeletion 7q11.23; elastinopathy--> arterial problems; overfriendly, dissociation b/t drawing and language; Hypercalcemia
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 + long QT (SCD)avoid drugs that prolong QT
Qualitative defect in collagen synthesis; point mutation; PPW dx after childhood, variable sclera; Mild (but not mildest) of the 4 types
AD: hearing loss + branchial cleft, preauricular pits, and unilateral renal agenesis
Gain of function mutation of FGFR3 (Ig or TK domain); Lethal
Maternal condition--> microcephaly, MR, cardiac defects 2/2 metabolic abnormality in mother and build up of a substrate;Child does NOT have PKU
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
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!)
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
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
Drug that is metabolized by CYP2C9 in liver (P-kinetics) and inhibits VKORC1 (P-dynamics) to achieve anticoagulation
MCC mental retardation; Hypotonia, ALL, AML, Hirschprung, duodenal atresia, Alzheimer's; MC 2/2 non-disjunction, but can be Robertsonian translocation; Life expectancy
CYP2D6 metabolizes many drugs, and converts codeine into stronger form morphine. T/F?
Differentiation of ovary vs. testis at __ weeks
F patient p/w primary amenorrhea, testes present, Mullerian structures absent, 46 XY; XLR
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
Qualitative defect in collagen synthesis; point mutation; PPW soft calvarium, beaded ribs, bowed legs, fatal in-utero fractures; most severe of the 4 types
Most impt gene for male development
Congenital infection--> limb hypoplasia
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
X-linked triplet repeat premutation of FMR1; causes early cessation of menses in female carrier. ALTERED RNA FUNCTION
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
This phase II enzyme normally degrades INH and hydralazine via acetylation; Slow = INH toxicity or drug-induced lupus (hydralazine)
Teratogen- Causes growth retardation, facial and nail defects, CNS defects, and cardiac defects (ASD, VSD); Symptoms depend on timing of exposure
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
Deletions at 22q11.2--> weak or cleft palate, long face w/ prominent nose, cardiac abnormalities (TOF, TA)
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 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
AR mutation of PKHD1 (fibrocystin/polyductin) (abbrev)
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)
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
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)
Does NOT detect point mutations, triplet repeat expansions, methylation abnormalities, balanced rearrangements
MCC of SCD in atheletes; 1/500 persons, 2/2 multiple genes that encode sarcomeric proteins of the contractile unit of cardiac muscle
Teratogen- Causes CNS anomalies, craniofacial defects, and cardiac defects; used to treat acne
Collagen: Pro alpha 2 chain is coded for on which chromosome?Point mutation- 1/2 normal amt of type I collagen
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
Qualitative defect in collagen synthesis; point mutation; PPW short stature, recurrent painful fractures, respiratory insufficiency; Severe (but not most severe) of the 4 types
Squashed face, prognathism, MR, seizures, inappropriate laughter; 70% maternal 15q microdeletion; 5% paternal UPD of 15q; 5% imprinting center mutation; 10% UBE3A mutation
Opposite of Williams; Autistic behavior
Congenital infection--> intracranial calcifications, microcephaly
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 abnormal quality or quantity of dystrophin; Milder course than duchenne; Dilated cardiomyopathy causes 50% of deathsPreserved function of neck flexors
Tall, eunuchoid stature, gynecomastia, dec IQ; 50/50 maternal/paternal nondisjx
PPW multiple congenital anomalies; Defect in 7-dehydrocholesterol reductase (biochemical diagnosis); 2,3 toe syndactyly, upturned nose; ARNOT a chromosomal abnormality
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
Dosage sensitive sex reversal on chromosome Xp (duplication = M to F sex reversal)Complicated!
Mutations in C282Y or H63D are common in hereditary form of:'bronze diabetes'
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
Maternal condition--> fetal macrosomia and polycythemia, neural tube defects, holoprosencephaly, or sacral agenesis
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
X-linked triplet repeat mutation of FMR1 causes hypermethylation and inactivation of FMR1 promoter (LOF); MCC of inherited form of mental retardation
Drug used to treat osteogenesis imperfecta; Side effect- osteonecrosis of the jaw
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
Congenital infection--> retinitis
Trisomy- Seizures, holoprosencephaly, malformed eyes, iris coloboma, cleft lip, ASD, VSD;75% 2/2 non-disjunction; 20% 2/2 Rob translocation
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
AD: hearing loss + eye and skin abnormalities
This phase II enzyme normally degrades irinotecan via glucuronidation; Slower = more toxicity
X-linked enzyme deficiency leading to inability to regenerate NADPH: hemolysis after taking oxidant drugs (black american males) or fava beans (white mediterranean males)
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
Presence of 9p21 variant is a/w increased or decreased risk of CAD?
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
Teratogen- Causes agenesis of limbs; used as anti-multiple myeloma, unknown mechanismOnly teratogenic between 3-5 weeks
AD; MC inherited form of long QT; NOT a/w hearing lossavoid drugs that prolong QT
Primordial germ cells migrate to gonadal ridge at __ weeks
AR: hearing loss + retinitis pigmentosa
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 mutation of PKD1 or PKD2 (abbrev)
Prenatal and postnatal growth deficiency; F>M; Triangular face, clenched hands, rocker bottom feet; VSD, ASD, hypertonia, seizures; Life expectancy
CYP3A4 encodes enzymes that metabolize 40% of all drugs. T/F?
This enzyme normally degrades ACh (or succinylcholine used for surgical muscle relaxation); Lower activity = longer paralysis post-op
PPW ambiguous genitalia, testes present, 46 XY; defect in receptor
Congenital infection--> cardiac defects, cataractsHappens when mother is infected for first time while pregnant
High-pitched mewing, minor facial abnormalities, MR5p deletion
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)
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'
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
Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes

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