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ABGC Board Exam Syndromes – Questions/Answers
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ABGC Board Exam Syndromes – Questions/Answers
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ABGC Board Exam Syndromes – Questions/Answers Acute intermittent porphyria Correct Ans - HMBS (AD)onset after puberty: acute attacks, abdominal and neuropathic pain
ALA testing of urine (looks like red wine)
alpha thalassemia Correct Ans - HBA1, HBA2 16p
HB bart (all 4 alleles missing, hydrops fetalis, neonatal death, no tx)
HbH (3 alleles missing, macrocytic anemia, transfusions)
Alpha trait (mild)
screen populations at risk for mutations in cis
90% deletions 10% sequencing
beta thalassemia Correct Ans - HBB 11p, AR
Onset 6-12 months
Severe (anemia and HSM)
Intermedia (milder, rarely transfusion)
Abnl peripheral blood smear, reduced RBCs
factor V leiden Correct Ans - F5, AD Increased risk for DVT (2-3X increase RR pregnancy loss)
APC resistance
F5 G1691A common mutation
Affects APC cleave site so remains active
Hemophilia A Correct Ans - F8, XLR
prolonged bleeding after surgery/injury, bleeding in joints, easy bruising, different severities, liver disease
intron 22 gene inversion (45%) intron 1 gene inversion (3%), mutations the rest
Hemophilia B Correct Ans - F9, XLR
prolonged bleeding after surgery/injury, hematomas, nose bleeds, easy bruising
F9 sequencing, has deletions and frameshift
Can give recombinant F9
Hemochromatosis Correct Ans - HFE, AR
Low penetrance, worse in males due to lack of menstruation high iron absorption, fatigue
C282Y/H63D
22q11.2 Deletion Syndrome/DiGeorge Syndrome Correct Ans - 2.54 Mb deletion, TBX1 (AD, 90% de novo)
Heart defects (especially TOF, VSD, other conotruncal), immune dysfunction, hypocalcemia, ID, palate abnl, learning difficulties, hearing loss
3-MB common deletion, 20kb also seen
Alagille syndrome Correct Ans - JAG1 & NOTCH2, AD, de novo
Cardiac defects, butterfly vertebrae, DD, bile duct paucity, posterior embryotoxon
Brugada syndrome Correct Ans - SCN5A LOF (AD)
Syncope, ventricular arrhythmia, sudden death in adulthood
sodium channel in heart, can be triggered during rest/sleep, fevers, procainamide, other meds
Cardiomyopathy Correct Ans - problems with the heart muscle, many genes and types, mainly AD
MYBPC3, MYH7, TTN, LMNA, TTR, PKP2, etc.
hypertrophic, dilated, restrictive, arrhythmogenic, non-compaction
Familial Hypercholesterolemia Correct Ans - LDLR, APOB, PCSK9, & very rare LDLRAP1
AD but AR more severe
severely elevated LDL-C (>190-200) leads to CAD, xanthomas (eyelids, tendons of elbows, hands, knees, and feet)
Long QT syndrome (classic) Correct Ans - AD prolonged QT interval
1. KCNQ1 - exercise
2. KCNH2 - emotions/loud sounds
3. SCN5A (GOF) - sleep/rest
Long QT syndrome (AR forms) Correct Ans - AR
Jervell and Lange-Nielsen: KCNQ1 and KCNE1 - SNHL
Timothy: CACNA1C - syndactyly, ASD/ID, frequent cavities
Andersen-Tawil: KCNJ2 periodic paralysis, dysmorphic features Hereditary Hemorrhagic Telangiectasia Correct Ans - ACVRL1 & ENG, AD
hemorrhage, cerebral AVM, no capillary beds, blood in stool, telangiectasias on mouth (looks like pimples)
Most mutations sequence followed by del/dup
Liver transplant
Holt-Oram syndrome Correct Ans - TBX5, AD (85% de novo)
Radial and ulnar bone defects, congenital heart disease
thumb looks like its got a rubber band around it
Leopard syndrome Correct Ans - PTPN11 (LOF) & RAF1, AD
Lentigines, EKG conduction defects, HCM > pulmonic stenosis, restricted growth, deafness
PTPN11 sequencing (80%)
little boy with hundreds of freckles and hearing aid
Noonan syndrome Correct Ans - PTPN11, SOS1, KRAS, RAF1 (AD)
pulmonic stenosis > HCM, short stature, renal malformation, bleeding disorders, curly/wooly hair, widely spaced nippes, full lips
Williams Syndrome Correct Ans - ELN, 7q11.23 AD
Supravalvular aortic stenosis, friendly, ID/DD/ASD/ADD, hypercalcemia, hypothyroid, FTT, renal
HBOC Correct Ans - AD
ovarian, prostate, breast
estrogen negative 185delAG & 5382insC (BRCA1) in AJ
6174delT (BRCA2) in AJ
999del5 (BRCA2) Icelandic
Familial Adenomatous Polyposis Correct Ans - APC (AD) 25-30% de novo
100s to 1000s adenomatous polyps, increased risk of CRC, duodenal, thyroid, stomach, etc.
jaw osteomas, CHRPE, dental anomalies
Gardner syndrome (polyp, osteomas, soft tissue tumros)
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