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Flashcards in X-linked diseases Deck (36)
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1

What are the clinical manifestations of Lesch-Nyhan Syndrome?

neuro and behavioral abnormalities; overproduction of uric acid; self injury

1

What is the fitness of Duchenne Muscular Dystrophy?

0%

2

What is the incidence rate of Lesch-Nyhan Syndrome?

1:380,000

2

What is not made in Duchenne Muscular Dystrophy?

dystrophin

3

What is the gene mutation in Lesch-Nyhan Syndrome? Why does uric acid build up?

HPRT1; purines are recycled

4

What is the incidence rate for Rett Syndrome?

1:10,000 females (males don't survive)

5

What are the clinical manifestations in Fragile X?

ID, large ears, long face, macroorchidism, autism, hand flapping, aggression

5

What is the normal CGG repeat range?

6-45

6

What are the clinical manifestation of Rett Syndrome?

loss of coordination and communication skills; abnormal hand flapping; failure to thrive; seizures

7

Clinical manifestations of Hypophosphatemic Rickets?

bone deformities, short stature, hypophosphatemia

8

There are no _____ transmissions in X-linked disorders.

male to male

9

What are the signs and symptoms of Becker Muscular Dystrophy?

same as DMD but later onset (some Dystrophin is made)

9

What gene is mutated in hemophilia A? What chromosome? What is it caused by?

F8; X chromosome; inversion

10

Females can be affected by _____ but not by _____.

X-linked dominant; X-linked recessive

11

How do X-linked recessive disorders occur?

from lyonization

12

What is the new mutation rate in Rett Syndrome?

95%

13

What is the repeat in Fragile X?

CGG

15

What is the incidence rate of Fragile X?

1:2500 males; 1:7000 females

17

X-linked recessive disorders show the phenotype in ______ males and _______ females.

all; homozygous

18

What is the incidence rate of Becker Muscular Dystrophy?

3:100,000

19

What is the incidence rate of Duchenne Muscular Dystrophy?

1:3600

20

What is the mutated gene in Fragile X? Which chromosome?

FMR1 on the X chromosome

21

What is the transmission bias for Fragile X?

maternal

22

What gene is mutated in Hypophosphatemic Rickets?

PHEX

22

What is the incidence rate of hemophilia A?

1:4000 males

24

What is the mutation in Rett Syndrome? Where is it located?

MECP2 gene on X chromosome

25

What is the result of a PHEX gene mutation??

kidneys cannot reabsorb phosphate into the blood; soft bones result

26

lyonization

silencing of one X chromosome

27

What is the difference between DMD-associated DCM and DMD?

no involvement in the skeletal muscle in DMD-associated DCM

29

Hypophosphatemic Rickets incidence rate?

1:20,000