Genetic Disease

Front 1

Familial Juvenile Nephronophthisis (NPHP1)

Back 1

Sx: chronic renal failure
Autosomal recessive mutation/deletion
NPHP1 flanked by inverted LCRs

Front 2

Williams-Bueren Syndrome

Back 2

LCR7
Commonly a 1.6 Mb deletion
Flanking cen, mid, tel LCR structures

Front 3

Prader-Willi Syndrome (PWS)
Angelman Syndrome (AS)

Back 3

LCR15s
Four clusters of LCRs termed BP1-BP4

Front 4

CMT1A-REPs
Smit-Magenis Syndrome-REPs
Neurofibromatosis type 1-REPs

Back 4

LCR17s
Three large LCR clusters (proximal, middle, and distal)

Front 5

DiGeorge Syndrome
Velocardiofacial Syndrome

Back 5

LCR22s
Common 3 Mb deletions
Unusual 1.5 Mb deletions

Front 6

Charcot-Marie-Tooth disease type 1A (CMT1A)

Back 6

Heterozygous duplication of PMP22 gene encoding peripheral myelin protein

Front 7

Hereditary neuropathy with liability to pressure palsies (HNPP)

Back 7

Heterozygous deletion of PMP22 gene encoding peripheral myelin protein
Rarely a loss of function point mutation in PMP22

Front 8

Congenital Dyskeratosis

Back 8

Mutations in hTR, dyskerin, Nhp2, Nop10, all related to telomerase activity.
Cause bone marrow failure, premature aging, abnormal pigmentation, hypogonadism, and more.

Front 9

Phenylketonuria (PKU)

Back 9

Mut: Phenylalanine hydroxylase (AR)
Prev: 1:15,000
Probs: High F and metabolites, musty urine, low Y -> CNS, catecholamine, melanin problems
Rx: Low F intake, Y becomes essential aa

Front 10

Dihydrobiopterin reductase & BH4 synthesis enzyme defficiencies

Back 10

BH2->BH4
Requisite in F -> Y and W -> 5-OH-W
Probs: high F & metabolites; low catecholamines, serotonin, melanin
Rx: Restrict F; Supplement BH4, DOPA, 5-OH-Tryptophan

Front 11

Maple Syrup Urine Disease

Back 11

Mut: branched-chain a-keto acid dehydrogenase (AR)
Prev: 1:185,000
Probs: cognitive, feeding, emesis, dehydration, metabolic acidosis
Rx: Limit L, I, V aa's

Front 12

Albinism

Back 12

Mut: tyrosine metabolism (AR, AD, X-linked)
Probs: low melanin, vision sensitivity, predisposed to skin cancer

Front 13

Homocystinuria

Back 13

Mut: homocysteine metabolism (AR)
Prev: 1:200,000
Probs: High homocysteine & M; low C; ectopia lentis, skeletal abnormalities, osteoporosis, arterial disease, mental retardation
Rx: Vitamin B6 response in some; low M intake

Front 14

Cystinuria

Back 14

Mut: transporters for cystine, basic, and positive aas in kidney (AR)
Prev: 1:7000
Probs: cystine stones in kidneys and urinary tract

Front 15

Alcaptonuria

Back 15

Mut: homogentisic acid oxidase (AR)
Prev: 1:200,000
Probs: high homogentisic acid in urine (oxidises black), arthritis, black pigmentation of cartilage, Sx arise ~40y/o
Rx: low protein, low F & Y