Genetics 5: X-linked dominant

Question 1

Inheritance of alports disease

Answer 1

X linked dominant

Question 2

Gene mutated in alports disease

Answer 2

Genes COL4 A3,4, or 5

In no x linked version, chro is 2

Question 3

Triad deafness, glomerulonephritis, visual problems

Answer 3

Collagen 4 deficiencies,

Genes CoL4A 3,4, or 5

Question 4

Treatment for alkaptonuria

Answer 4

Treat like you would any other renal failure patient. Hemodyalisis

Question 5

Girls develo normally until 6 months or 18 months, then regression beginsof motor and verbal skills, head growth slows down a lot, autism like behavior. Gene? Dx?

Answer 5

Rett Syndrome

Gene MECP2

Question 6

Inheritance for Rett syndrome

Answer 6

X linked dominant disease

Question 7

18 month old child, cries unconsolably, does not show any social interactions anymore, speech regression, language regression, motor regression, new injuries but no complaints, so no sensation. Gene? Dx?

Answer 7

Retts Syndrome

Gene MECP2

Question 8

18 month old child with hypotonia, or dystonia, and walking difficulties, chorea like movements, bruxims (grinding of teeth)
Gene? Dx?

Answer 8

Rett syndrome

Gene MECP2

Question 9

What cardiac condition should you monitor in a patient with Rett syndrome

Answer 9

Monitor EKG for long QT syndrome, torsade de pointes, can lead to ventricular fibrillation and death

Question 10

Management of Rett syndrome?

Answer 10

Beta blockers for Qt syndrome, social worker for social skills. Anti psychotics for self harm behavior,

Question 11

Mutation whereby a person cannot respond permanently to vitamin D. They pee calcium all the time.

Answer 11

Mutation in PHEX gene
Chr Xp22
Vitamin D resistance rickets or X linked hypO phosphatemia.

Question 12

Mena develop gene varum (outward bowing of knees)

Women develop inward bowing of knees

Answer 12

Vitamin D resistant Rickets
HypO phosphatemia X linked
Chr, Xp22
Gene PHEX