ABGC BOARDS EOC 2025/2026 QUESTIONS WITH
ANSWERS GRADED A+
✔✔What should individuals with Ataxia Telangiectasia avoid? - ✔✔Ionizing radiation
✔✔What gene is associated with Sotos? - ✔✔NSD1
✔✔Solos follows what inheritance pattern? - ✔✔AD
✔✔Increased body mass, delayed motor/cognitive/verbal/social --phobias, aggression,
seizures, chronic constipation common - ✔✔Sotos
✔✔What syndrome is caused mostly by microdeletions in individuals of Japanese
ancestry and intragenic mutations in non-Japanese? - ✔✔Sotos
✔✔What gene is associated with Canavan syndrome? - ✔✔ASPA
✔✔Macrocephaly, lack of head control, DD by 3-5mo, severe hypotonia? - ✔✔Canavan
✔✔What syndrome is caused by mutations in the IKBKAP gene? - ✔✔Familial
Dysautonomia
✔✔Syndrome characterized by progressive GI dysfunction,recurrent pneumonia,
altered pain/temp sensitivity and breath holding behavior? - ✔✔Familial Dysautonomia
✔✔What gene is responsible for juvenile onset Parkinson's disease? - ✔✔PARK2
✔✔Parkinson's disease follows what inheritance pattern? - ✔✔AD, AR, multifactorial
✔✔What syndrome presents with liver disease? - ✔✔Wilson Disease
✔✔What syndrome can be detected by increased urinary copper secretion? - ✔✔Wilson
Disease
✔✔What gene is responsible for FMF? - ✔✔MEFV
✔✔What is the first clinical feature of FMF II? - ✔✔Amyloidosis
✔✔Recurrent fever and joint pain? - ✔✔FMF
✔✔Muscular dystrophy primarily characterized my proximal muscle weakness? -
✔✔Sarcoglycan Limd Girdle Muscular Dystrophy
, ✔✔What gene produces Connexin 26? - ✔✔GJB2
✔✔What two proteins are associated with congenital hearing loss? - ✔✔Connexin 26
and 30
✔✔What gene produced Connexin 30? - ✔✔GJB6
✔✔Cone-rod dystrophy, obesity, postaxial polydactyly, gentiourinary malformations? -
✔✔Bardet-Biedel
✔✔Bardet-Biedel follows what pattern of inheritance? - ✔✔AR
✔✔Alagille follows what inheritance pattern? - ✔✔AD
✔✔What percentage of Alagille cases are de novo? - ✔✔50-70%
✔✔What genes are responsible for Alagille syndrome? - ✔✔JAG1, Notch2
✔✔Peripheral artery disease, cholestasis, butterfly vertebrae, eye abnormalities,
development/growth delay? - ✔✔Alagille
✔✔Bilateral SNHL, Long QT? - ✔✔Jervell and Lange-Nielsen
✔✔What syndrome is caused by mutations in KCNQ1 and KCNE1? - ✔✔Jervell and
Lange-Nielsen
✔✔Jervell and Lange-Nielsen follows what inheritance pattern? - ✔✔AR
✔✔Bilateral SNHL, temporal bone abnormalities, vestibular abnormalities, goiter? -
✔✔Pendred
✔✔What gene is responsible for Pendred syndrome? - ✔✔SLC26A4
✔✔HL and retinitis pigmentosa? - ✔✔USHER
✔✔What syndrome is associated with seizures, hypotonia, vision/HL, combined with
rash, alopecia and/or candidiasis? - ✔✔Biotinidase deficiency
✔✔Biochemical testing for biotinidase defitions involves measuring what? - ✔✔Normal
serum biotinidase enzyme activity
✔✔What syndrome is characterized by cranisynostosis, hypo plastic clavicles and
dental anomalies? - ✔✔Cleidocranial Dysplasia
ANSWERS GRADED A+
✔✔What should individuals with Ataxia Telangiectasia avoid? - ✔✔Ionizing radiation
✔✔What gene is associated with Sotos? - ✔✔NSD1
✔✔Solos follows what inheritance pattern? - ✔✔AD
✔✔Increased body mass, delayed motor/cognitive/verbal/social --phobias, aggression,
seizures, chronic constipation common - ✔✔Sotos
✔✔What syndrome is caused mostly by microdeletions in individuals of Japanese
ancestry and intragenic mutations in non-Japanese? - ✔✔Sotos
✔✔What gene is associated with Canavan syndrome? - ✔✔ASPA
✔✔Macrocephaly, lack of head control, DD by 3-5mo, severe hypotonia? - ✔✔Canavan
✔✔What syndrome is caused by mutations in the IKBKAP gene? - ✔✔Familial
Dysautonomia
✔✔Syndrome characterized by progressive GI dysfunction,recurrent pneumonia,
altered pain/temp sensitivity and breath holding behavior? - ✔✔Familial Dysautonomia
✔✔What gene is responsible for juvenile onset Parkinson's disease? - ✔✔PARK2
✔✔Parkinson's disease follows what inheritance pattern? - ✔✔AD, AR, multifactorial
✔✔What syndrome presents with liver disease? - ✔✔Wilson Disease
✔✔What syndrome can be detected by increased urinary copper secretion? - ✔✔Wilson
Disease
✔✔What gene is responsible for FMF? - ✔✔MEFV
✔✔What is the first clinical feature of FMF II? - ✔✔Amyloidosis
✔✔Recurrent fever and joint pain? - ✔✔FMF
✔✔Muscular dystrophy primarily characterized my proximal muscle weakness? -
✔✔Sarcoglycan Limd Girdle Muscular Dystrophy
, ✔✔What gene produces Connexin 26? - ✔✔GJB2
✔✔What two proteins are associated with congenital hearing loss? - ✔✔Connexin 26
and 30
✔✔What gene produced Connexin 30? - ✔✔GJB6
✔✔Cone-rod dystrophy, obesity, postaxial polydactyly, gentiourinary malformations? -
✔✔Bardet-Biedel
✔✔Bardet-Biedel follows what pattern of inheritance? - ✔✔AR
✔✔Alagille follows what inheritance pattern? - ✔✔AD
✔✔What percentage of Alagille cases are de novo? - ✔✔50-70%
✔✔What genes are responsible for Alagille syndrome? - ✔✔JAG1, Notch2
✔✔Peripheral artery disease, cholestasis, butterfly vertebrae, eye abnormalities,
development/growth delay? - ✔✔Alagille
✔✔Bilateral SNHL, Long QT? - ✔✔Jervell and Lange-Nielsen
✔✔What syndrome is caused by mutations in KCNQ1 and KCNE1? - ✔✔Jervell and
Lange-Nielsen
✔✔Jervell and Lange-Nielsen follows what inheritance pattern? - ✔✔AR
✔✔Bilateral SNHL, temporal bone abnormalities, vestibular abnormalities, goiter? -
✔✔Pendred
✔✔What gene is responsible for Pendred syndrome? - ✔✔SLC26A4
✔✔HL and retinitis pigmentosa? - ✔✔USHER
✔✔What syndrome is associated with seizures, hypotonia, vision/HL, combined with
rash, alopecia and/or candidiasis? - ✔✔Biotinidase deficiency
✔✔Biochemical testing for biotinidase defitions involves measuring what? - ✔✔Normal
serum biotinidase enzyme activity
✔✔What syndrome is characterized by cranisynostosis, hypo plastic clavicles and
dental anomalies? - ✔✔Cleidocranial Dysplasia
