NBME 24 The patient has another mutation that was not included in the previous analysis (NBME Answers)

NBME 24 Answers ↦

nbme24/Block 2/Question#42 (reveal difficulty score)
A 3-week-old female newborn is brought to the ...
The patient has another mutation that was not included in the previous analysis🔍,📺
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+21
submitted by ∗seagull(1721),

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/wPbi9t/i:toslnMh699ign/tw/emc.r/.n./8a.pslhc4wm4pvCc

ndicrAocg to this p,erpa taroPutmsp iohisdrtTyi etrsenps htiw TPtOi-na bsonadeii.t Teh ewanrs ciohec sues ehymslot.cpy So sthi si a stenartin mtsiahHoso teoyd.yhripmrisH odGo ckLu hitw ttah !neo

+12
submitted by ∗colonelred_(118),

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heT ainsylsa lony ohsdew a nauiomtt ni one .alelel CF si an mosolaatu riesecves isse:ade hte sasdeie ylon fmisatnse fi tereh aer tmianosut ni othb lelsela fo hte TCRF eg.en

fI you tllsi aveh 1 infatluocn cyop of eht CTRF ,ngee yuo cna illst kema het CFTR eipnrot ht(e idheclor anhns,)a/rletertrnpco cehne uroy odby to’wn heav nya eissus.

Tshi is lganuaoso to utrom prsusorpse enseg keli bR: os gnol as oen of the lasllee uoy evah si fluon,incta uoy can amke nohueg fo hte trnoipe to mae“k ”pu ofr hte ievdetfce llle.ea If bhto etg nkckedo tuo /(,bR--) yuo selo teh nciottopre dodieprv yb het gnee aucebes won uoy meak on tproein ta .lla

heT ylon igtnh ttha mead eenss ofr hist stunoqie saw the fcta thta teh htore elllea swa ton dlneiudc ni hte l.aisyans

charcot_bouchard OR another allele has a diff type of mutation because CF is done by like hundreds of diff type of mutation. SO the 70 types that we screened covered one type from one parent but not another that was inherited from other parent. +43

soph I put D thinking there was a mutation in another protein that interacts with CFTR....thus u dont have CF but some disease with similar phenotype. Is this wrong bc its simply not the case ?? +13

nbmehelp @charcot_bouchard I think that makes more sense if I understand what you're saying- Probably had a mutation only in 1 of 2 of the same alleles in the analysis but had another mutation in 2 of 2 alleles at a different location not included in the analysis, right? +

fallot4logy CF is a rare disease , and the possibility to have a mutated gene plus a gene that its not belong to 70 most common cf mutations is extremely rare +5

gubernaculum @soph i picked D too but now looking back, the panel had 70 of the most common CFTR gene mutations so it is unlikely that they didn't already check a gene that codes for a protein that interacts with CFTR? that's the only way i can rationalize it. its bad writing ultimately +

peridot I also picked D, but there are over 1700 different mutations for CF and it's too hard to test for them all - the panel in the question tested for the 70 most common. As others mentioned, CF is an autosomal recessive disease, so there must be another mutated allele here for the child to present with the disease. It's more likely, and I imagine not uncommon, that the mutation is not in the panel. As for D, I suppose the best reasoning I can come up for it is that nothing like that exists - what protein interacts with ONE mutated CFTR allele in that it results in the same phenotype as CF, a disorder that requires TWO mutated alleles? I have never heard of such a thing, whereas I have definitely heard of A being the case. +2

weirdmed51 @peridot , ‘B’ being the cause you mean +

+7
submitted by ∗eli_medina9(21),

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LELICLA EYOITRGETNHEE (FA geap 75 0192)

erehsT lmeuplit elalel insatvra for het RTFC ngee in a silgne cuo,ls os you docul teg tsciyc ifiorbss omrf a itaumton ni ayn eon of osteh eealll asi(eshnttrvrea rveo 1050 rdtifefen snumttoai rcbeds)dei hte oqsnietu mset iodmtnene ethy edetts ofr eth osmt cmoonm s,tpey os ew nac saseum ythe bplarbyo jtus msseid gtnstei rfo nsttuomia in herot lelalse.

peqmd https://www.cff.org/What-is-CF/Genetics/Types-of-CFTR-Mutations/ +

melanoma in other alleles?, we only have two alleles per gene +

qiss @melanoma "other alleles" as in the same allele with a different type of mutation. Like eli_medina9 mentioned, CF simply can be caused by thousands of different mutations of the CFTR gene. This baby girl has two alleles, one of them with a mutation found in the analysis and the other allele with a mutation that wasn't detected amongst the most common mutations. +

+1
submitted by ∗bharatpillai(34),

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TIR is sudmeera in reinuto kepceri-hl bodlo knaet for bieamhloicc genisrenc fo all oewnbnr sfatnni bron ni het KU. iThs estt si eon of a ubenmr of locedmetp in bnrenwo gneirnces ht(e tGieu"hr etT"s.) In itsauarlA ti is kwnon 49% of hotes htiw vetunale sosaindig of FC veha a vtieosip TRI on robwenn .ecrnse aemSpls hitw a rsdiea IRT eidn(efd sa ihegths 1% of uesavl) ear tneh dsnecere ofr oocmmn FC eneg t.oniusamt Each ectnre hsa a gltshlyi ereftnfid gnee lpaen; erntulryc -4050 fo eth stmo cnmomo enseg era dqnusecee. roH,wvee rthee rea erom tanh 0020 kwonn tsaim,onut so gene elanp nisgett odse sism lncciaaoso CF apntitse

fI geen etnitsg fdisn one otuaitnm htye wlli hent aehv a tawse ttes to hepl cmfiron het n.isdgaois tewSa tensigt is omre eliylk ot be uaoivcqel ni nafsitn nad taclpiyly ont mptdeteat ni ehtso duern k.g5 fI ewats ttse si eistvpoi oemr nivepesax egen sttnegi is eecinos.rdd If otw aouittsmn are fdnuo tyhe rea ngseaiddo thwi F.C

bharatpillai i swear to god some asshat who wrote this question immediately followed it up by making a wikipedia post about it to pretend like this is some common knowledge medical students were supposed to have. +1

utap2001 Great! After reading your explanation, I eventually understand the meaning of this question. +

+0
submitted by ∗sweetmed(149),

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uoy eden a mutnotai ni 2 aeeslll to egt FC ns[iec it si tuoaoaslm iee]rvc/sse

+0
submitted by ∗an_improved_me(73),

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nhAtore tinhg... s'tnI it eibssolp that btho hte sweta rehcilod ttse nda teh iciuveneammort pinstry rea sutj faesl +? hBto of heets estts evha ettpry wol sethhdolr rof gitruenrn sa a + .snesepor hWy tcn'a it eb eliosbps htat one lcieall tiomtuan is ehnguo ot seacu a ivtipeso lsurte in etseh ,sttes httiowu ullctyaa nynggisiif het pt hsa a desise?a My lnoy usgse si hatt ncesi tow awesnsr antcidie atht heert uocdl eb a fseal vtpsi,eoi eihertn can be hte tihrg .werasn