Inheritance Patterns of Conditions

Question 1

Pyruvate Dehydrogenase Complex Deficiency

Answer 1

Most commonly X-linked

Question 2

Zellweger

Answer 2

Autosomal Recessive

Question 3

PGL-1

Answer 3

AD, caused by mutations in SDHD, TUMORS ONLY DEVELOP IF MUTATION IS INHERITED PATERNALLY (due to maternal genomic imprinting)

Question 4

Progressive external ophthalmoplegia (POLG1)

Answer 4

Autosomal Dominant

Question 5

Sideroblastic anemia (ABC7)

Answer 5

X-linked

Question 6

Barth Syndrome (tafazzin)

Answer 6

X-linked (TAZ)

Question 7

Mor-Tranebjaerg Syndrome (DDP1)

Answer 7

X-linked recessive(TIMM8A)

Question 8

mtDNA depletion (POLG1, TK2, DGUOK, etc.)

Answer 8

Autosomal Recessive

Question 9

MNGIE

Answer 9

Autosomal Recessive (TYMP)

Question 10

MEMSA

Answer 10

Autosomal Recessive (POLG)

Question 11

Ataxia Neuropathy Spectrum

Answer 11

Autosomal Recessive (POLG)

Question 12

Childhood Myocerebrohepatopathy Spectrum (MCHS)

Answer 12

Autosomal Recessive (POLG)

Question 13

Alpers-Huttenlocher Syndrome (AHS)

Answer 13

Autosomal Recessive (POLG)

Question 14

Kearns-Sayre Syndrome (KSS)

Answer 14

Mito/Maternal

Most commonly heteroplasmy for the 4.9 kb mtDNA common deletion

Question 15

MELAS

Answer 15

Mito/Maternal

3243A>G = common mutation

Question 16

MERRF

Answer 16

Mito/Maternal

8344A>G = common mutation

Question 17

NARP

Answer 17

Mito/Maternal

8993G>T or G>C

Question 18

Maternally inherited deafness

Answer 18

Mito/Maternal

1555A>G

Question 19

LHON

Answer 19

Mito/Maternal

11778G>A, 3460G>A, 14484T>C (associated with visual improvement)

Question 20

Chronic Progressive External Ophthalmoplegia (CPEO)

Answer 20

Mito/Maternal

OR

Mutations in nuclear genes, causing mtDNA instability and secondary DNA mutations (DNA depletion)

Question 21

Pearson Syndrome

Answer 21

Mito/Maternal (same common deletion as KSS and PEO)

Question 22

Leigh disease

Answer 22

Mito/Maternal or in nuclear genes

8993T>G or 8993 T>C

Question 23

DMD

Answer 23

X-linked recessive

Question 24

Myotonic Dystrophy type I

Answer 24

Autosomal dominant

Repeat expansion disorder: CTG in 3’ UTR

DMPK = gene

Question 25

Congenital Myotonic Dystrophy

Answer 25

Autosomal dominant

Repeat expansion disorder: CTG in 3’ UTR

DMPK = gene

Question 26

Huntington disease

Answer 26

Autosomal dominant

Repeat expansion disorder: CAG in exon 1

HTT gene

Question 27

Juvenile Huntington Disease

Answer 27

Autosomal dominant

Repeat expansion disorder: CAG in exon 1 (>60 repeats are associated with juvenile form)

HTT gene

Question 28

Fragile X

Answer 28

X-linked dominant

Repeat expansion disorder: CGG in 5’ UTR

FMR1 = gene

Question 29

Fragile X E (FRAXE) Mental Retardation

Answer 29

X-linked recessive

Repeat expansion disorder: CCG in 5’ UTR

FMR2 = gene

Question 30

Phosphorylase Kinase deficiency (GSD IX)

Answer 30

X-linked