X linked mitochondiral disorder

Question 1

Fragile X syndrome info

Answer 1

X linked dominant
CGG (6-45 normal
          46-55 Grey zone
          56-200 premutation
           >200 full mutation
more common in males
maternal anticipation

Question 2

Fragile X syndrome clinical

Answer 2

• Intellectual diability
• Dysmorphic features:
  large ears,
  long face,
  macroorchidism
• autistic behavior
• social anxiety
• hand flapping and biting
• aggressio

Question 3

Fragile X syndrome molecular

Answer 3

• FMR1
• FMRP
  Xq27.3
• increased CGG repeat methylate the genes.
• no proteins for cognitive development and reproductive function

Question 4

Lesch Nyhan syndrome info

Answer 4

X linked recessive

1/380000

Question 5

Lesch Nyhan syndrome clinical

Answer 5

• neurological and behavioral abnormalities
• overproduction of uric acid
• self injury

Question 6

Lesch Nyhan syndrome molecular

Answer 6

• HPRT1

- bad hypoxanthine phosphoribosyltranserase1

Question 7

Dystrophinopathies

Answer 7

X linked recessive
- Duchenne Muscular Dystrophy
- Becker Muscular 
Dystrophy
-DMD- associated dilated cardiomyopathy

Question 8

Duchenne muscular dystrophy molecular (and other dystrophinopathies)

Answer 8

DMD mutation
no Dystrophin
Chro Xp21-21.1
(largest human gene)

Question 9

Duchenne muscular dystrophy clinical

Answer 9

• progressive muscular weakness from proximal to distal
• calf hypertrophy
• dilated cardiomyopathy
• CK levels 10X
• onset before age 5
• wheelchair bound before 13
• death in 30s
• reproduction

Question 10

Hemophilia A info

Answer 10

X linked recessive
1/4000 male births
10% carrier females affected

Question 11

Hemophilia A clinical

Answer 11

• spontaneous bleeds into joints, muscles, intracranial
• excessive brusing
• prolonged bleeding after injury
• delayed wound healing

Question 12

Hemophilia A molecular

Answer 12

• F8 mutation
• no factor VIII(coagulation)
• Chro Xq28
• 22A inversion–>50% cause

Question 13

Kearns Sayre info

Answer 13

mitochondrial inheritance
1-3/100000
somatic mutation

Question 14

Kearns Sayre clinical

Answer 14

eyes most commonly afected
cardiac conduction defects
ataxia (abnormal gait)
deafness
kidney problems

Question 15

Kearns Sayre molecular

Answer 15

• single large deletion in mtDNA

- removes common 12 genes

Question 16

MEERF

Answer 16

• mitochondrial inheritance
• MT-TK mutation in mt gene
• muscle symptom
• seizures
• ataxia
• dementia
• ragged red fibers

Question 17

Leber hereditary optic neuropathy

Answer 17

mitochondrial inheritance
1/30000-50000 Euro
MT-ND1,4,4L,D6 mutation
Vision loss
more common in males
reduced penetrance

Question 18

MELAS

Answer 18

Mitochondrial inheritance
1/300000
MT-ND1,5,TH,TL1,TV
low new mutation
muscle weakness
seizures
repetitive stroke like episodes
elevated lactic acidosis