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Flashcards in Sex - Linked Deck (19)
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1

X-linked Dominant Disorders

Hypophosphatemic Rickets, Fragile X Syndrome, Charcot Marie Tooth disease, Incontinentia pigmenti rett syndrome, Orofacicodigital syndrome, foracl dermal hypoplasia

2

Hypophosphatemic Rickets

X-linked Dominant PHEX, regulates fibroblast GF inhibits the kidneys ability to reabsorb phosphate into blood

3

Hypophosphatemia, short stature, bone deformity

Hypophosphatemic Rickets

X-linked Dominant

Mutation: PHEX, regulates fibroblast GF inhibits the kidneys ability to reabsorb phosphate into blood

4

Fragile X Syndrome

X-linked dominant Trinucleotide repeat disorder CGG (in 5'UTR region) Anticipation, Maternal transmission

Clinical: ID, dysmorphic features (large ears, long face, macroorchidism), Autism, Social anxiety, hand flapping/biting, aggression

Mutation: FMR1 (protein essential for normal cognitive devo and female repo. function increase trinucleotide repeat number methylate gene--> LOF

5

ID, dysmorphic features (large ears, long face, macroorchidism), Autism, Social anxiety, hand flapping/biting, aggression

Fragile X Syndrome X-linked dominant Trinucleotide repeat disorder CGG (in 5'UTR region) Mutation: FMR1 (protein essential for normal cognitive devo and female repo. function increase trinucleotide repeat number methylate gene--> LOF

6

Rett Syndrome

X-linked Dominant

Clinical: Loss of normal movement and coordination, loss of communication skills, failure to thrive, Seizures, abnormal hand movements

Mutation: MECP2 (methyl CpG binding protein) essential for the normal function of nerve cells

7

Loss of normal movement and coordination, loss of communication skills, failure to thrive, Seizures, abnormal hand movements

Rett Syndrome

X-linked Dominant

Mutation: MECP2 (methyl CpG binding protein) essential for the normal function of nerve cells

8

X-linked Recessive Disorders

Lesch-Nyhan Syndrome Dystrophinopathies Hunter's Disease Menaces Disease Glucose 6 phosphate dehydrogenase deficiency Hemophilia A and B Wiscott Aldrich Syndrome Colorblindness

9

Lesch-Nyhan Syndrome

X-linked recessive

Clinical: Neurological and behavioral abnormalities, overproduction of uric acid, self injury

Mutation: HPRT1 recycling of purines

10

Neurological and behavioral abnormalities, overproduction of uric acid, self injury

Lesch-Nyhan Syndrome

X-linked recessive

Mutation: HPRT1 recycling of purines

11

Dystrophinopathies

X-linked recessive s

pectrum of muscle disease from mild to severe: Duchenne Muscular Dystrophy (most severe) Becker Muscular Dystrophy DMD-associated dilated cardiomyopathy

mutation: DMD (dystrophin) Xp21-21.1

12

Duchenne Muscular Dystrophy

X-linked recessive

Clinical: Progressive muscular weakness (proximal to distal), calf hypertrophy, dilated cardiomyopathy, High CK levels, onset before age 5, wheelchair before age 13, death in 30s No dystrophin

Mutation: DMD

13

15 yo, wheelchair bound since age 13, muscle weakness, calf hypertrophy, dilated cardiomyopathy, CK levels x10

Duchenne Muscular Dystrophy

X-linked recessive

14

Becker Muscular Dystrophy

X-linked recessive

Clinical: Progressive muscular weakness (proximal to distal), dilated cardiomyopathy, CK levels 5x, onset later than duchenne muscular dystrophy, wheelchair bound after 16yo, death in 40s abnormal quantity or quality of Dystrophin

Mutation: DMD

15

20 yo, wheelchair bound since age 16, muscle weakness that developed over time, dilated cardiomyopathy, CK levels 5x

Becker Muscular Dystrophy

X-linked recessive

16

DMD-associated DCM

X-linked recessive

Clinical: dilated cardiomyopathy presenting between 20-40 yo, early death, no skeletal muscle involved no dystrophin in myocardium

Mutation: DMD

17

Died around 55 after presenting with dilated cardiomyopathy at age 30

DMD-associated Dilated Cardiomyopathy 

18

Hemophilia A

X-linked recessive

Clinical: Spontaneous bleeds into joints, muscles or intracranial. excessive bruising, prolonged bleeding after injury, delayed wound healing

Mutation: F8 deficiency of factor VIII, chr. Xq28

19

Spontaneous bleeds into joints, muscles or intracranial. excessive bruising, prolonged bleeding after injury, delayed wound healing

Hemophilia A

X-linked recessive

Mutation: F8 deficiency of factor VIII, chr. Xq28