Genes

Question 1

CNGA3

Answer 1

Achromatopsia also cone-rod dystrophy

Question 2

achromatopsia genes

Answer 2

CNGA3, CNGB3, GNAT2, PDE6C, orPDE6H.

Question 3

RP genes (if AD, AR, XL)

Answer 3

• AR: (70%)
  
  • Ush2A &
  • ABCA4
• AD: 15%
  
  • Rho​
• XL: 15%
  
  • RPGR (80%) most severe early onset
  • RP2 (10%)

ALSO:

• RDS
• RP1
• C1QTNF5
• CNGA1
• CRB1
• NR2E3
• PDE6B
• RDH12
• RPE65

Question 4

what genes cause Stargardts?

Answer 4

• if AR:ABCA4
• if AD: ELOV4

Question 5

which are the LCA genes?

Answer 5

• RPE65
• CEP290
• CRB1
• CRx
• GUCY2D
• LCA5
• LCA9

Question 6

which genes cause achromatopsia?

Answer 6

• CNGB3
• CNGA3
• GNAT
• PDE6C

Question 7

wich genes cause cone-rod dystrophy?

Answer 7

• ABCA4
• CRX
• GUCY2D
• GUCA1A

Question 8

genes that cause Usher type I

Answer 8

• MYO7A
• USH1C
• USHE1G
• CDH23

Question 9

genes that cause Usher type II

Answer 9

• USH2A
• GPR98

Question 10

genes that cause Usher type III

Answer 10

• CLRN1
• ABHD12

Question 11

what is the MIM number?

Answer 11

numerical taxonomic system for inherited disorders.

Mendelian Inheritance in Man

Question 12

best disease gene?

Answer 12

BEST1 (AKA VMD2)

chromosome 11q12.3

encodes for the transmembrane protein bestrophin 1

Question 13

RPGR function?

what diseases it cause?

location?

Answer 13

• escential for normal vision
• role in cilia function
• produces RPGR protein
  
  • several isoforms
  • one of them has the ORF15 exon
  • this is expressed in the retina
• Diseases:
  
  • CRD
  • RP
• Xp11.4

Question 14

what is the most common cause of RP:

• AD: RHO (30%)
• AR: USH2A (15% ,there are more than 35 genes)
• XL-RP: RPGR (70-90%) and RP2 (10-20%) (majority of cases but there are 4 more genes) - OFD1 (rare)