Bfcp1B Diseases--Genetics

Front 1

Wardenburg syndrome type 4

Back 1

Nonsense mutation (w/NMD functiional)

Hint 1

n/a

Front 2

Hirschsprung disease

Back 2

Nonsense mutatition (w/NMD functional)

Hint 2

n/a

Front 3

Duchenne MD

Back 3

frameshift mutation w/premature stop codon (most)

Hint 3

absence of dystrophin

Front 4

Cystic fibrosis

Back 4

Nonsense mutation

Hint 4

n/a

Front 5

Hemophilia A/B

Back 5

Nonsense mutation

Hint 5

n/a

Front 6

Methyl malonic acidemia

Back 6

Nonsense mutation

Hint 6

n/a

Front 7

Spinal muscular atrophy

Back 7

Splicing mutation--exon 7 skipped in SMN1 gene

Hint 7

n/a

Front 8

Becker MD

Back 8

in frame insertion

Hint 8

dystrophin present/loss of function--less common than Duchenne's by 10x

Front 9

Tay Sachs

Back 9

frameshift mutation (deletion) of hexosaminidase A gene

Hint 9

1/30 Ashkanazi Jews, normal infants, accumlation of gangliosides in neurons leading to death by age 2 or 3

Front 10

Huntington's

Back 10

dynamic mutation disorder (coding region)

Hint 10

gain of function, aggregation of abnormal proteins, CAG expansion leads to a polyQ (glutamine) tract that may induce apoptosis; leads to dilation of lateral ventricles and atrophy of basal ganglia; choreoform movement

Front 11

Friedrich's ataxia

Back 11

dynamic mutation disorder (non-coding region)

Hint 11

n/a

Front 12

Myotonic distrophy

Back 12

dynamic mutation disorder (non-coding region)

Hint 12

CTG expansion causes mRNA transcript of DMPK gene to sequester splicing factors affecting unrelated genes

Front 13

Fragile X

Back 13

dynamic mutation disorder (non-coding region)

Hint 13

CGG expansion (>230) at 5' end of FMRP; leads to hypermethylation (!) and loss of gene function; MR; autistic features, long face, Xq27.3 (folate sensistive fragile site); FMRP protein product expressed in brain and testes; associated with polyribosomes; premutation carriers have subtle effects; expands from mother w >90 repeats

Front 14

Cystic fibrosis

Back 14

recessive X-some 7; allelic heterogeneity

Hint 14

n/a

Front 15

Prader-Willi

Back 15

del(15)(q11q13)pat involving SNURF-SNRPN or UPD15mat

Hint 15

genetic obesity, hyperphagia, short stature, cognitive dysfunction, almond eyes, behavioral abnormalities

Front 16

Angelman syndrome

Back 16

del(15)(q11q13)mat or UPD15pat

Hint 16

MR, absent speech, ataxic gait, "happy puppets", protuding tongue, think uper lip, can also involve a UBE3A mutation

Front 17

Beckwith Wiedeman Syndrome

Back 17

imprinting disorder on 11p15.5; IGF2 is maternally imprinted, H19 is paternally imprinted

Hint 17

omphalocele; diastisis recti; macroglossia and nevus flammeus; overexpression of paternal IGF2 and silencing of maternal H19 are both causative; silencing of CDKN1C mat is also an issue

Front 18

Neonatal diabetes

Back 18

paternal 6 imprinting disorder

Hint 18

n/a

Front 19

Russell-Silver

Back 19

maternal 7 imprinting disorder

Hint 19

n/a

Front 20

Dwarfism

Back 20

paternal 14 imprinting disorder

Hint 20

n/a

Front 21

Rett syndrome

Back 21

Xq28 disorder (MECP2)

Hint 21

methyl CpG binding protein 2 disorder, involved in transcriptional silencing and epigenetic regulation of methylated DNA; never seen in boys (probably fatal); girls develop normally for 6 to 18 months and start to regress; characteristic handwringing, head growth slows, loss of eye contact, severe mental impairment

Front 22

Osteogenesis imperfecta

Back 22

gain of function; dominant negative

Hint 22

n/a

Front 23

Skeletal dysplasias

Back 23

different mutations in FGFR3 exhibiting pleiotropy

Hint 23

thanotropic dysplasia > achondroplasia > hypochondroplasia

Front 24

tuberous sclerosis

Back 24

locus heterogeneity illustrant

Hint 24

autosomal dominant caused by TSC1 or TSC2

Front 25

retiniitis pigmentosa

Back 25

locus heterogeneity illustrant--over 100 genes

Hint 25

n/a

Front 26

fatal familial insomnia

Back 26

due to D178N mutation in prion protein (PRNP) coupled in Cis with Met129 variant

Hint 26

n/a

Front 27

Creutzfeldt-Jakob disease

Back 27

D178N missense mutation in the prion protein (PRNP) coupled in cis with the
Val129 variant

Hint 27

n/a

Front 28

PKU

Back 28

homozygous or heterozygous for PAH gene

Hint 28

disease is not manifested if phenylalanine is eliminated from diet

Front 29

Von Willebrand factor (vWF) deficiency

Back 29

mutation in the VWF gene on 12p

Hint 29

disease of blood coagulation caused by mutation in the VWF gene on 12p; dominant--missense; recessive--nonsense, deletions, frameshift

Front 30

Marfan syndrome

Back 30

variable expressive disease of fibrillin gene (FBN1) on 15q

Hint 30

scoliosis, tall-thin, long fingers wrap around wrist

Front 31

Lissencephally

Back 31

n/a

Hint 31

defective migration of neurons in cortical development

Front 32

Synpolydactyly

Back 32

HOX-D13 mutation

Hint 32

deformed hands due to a mutation in a pattern formation gene

Front 33

Hand-foot-genital syndrome

Back 33

HOX-A13 mutation

Hint 33

deformed hands due to a mutation in a pattern formation gene

Front 34

Wardenburg syndrome type 1

Back 34

PAX3 mutation

Hint 34

tuft of white hair, iris heterochromia

Front 35

Aniridia

Back 35

PAX6 mutation

Hint 35

poorly developed iris

Front 36

Holoprosencephaly

Back 36

Shh loss of function; 7q36, also NOTCH

Hint 36

ventral neural tube and midline differentiation disorder due to a segmentation gene

Front 37

Basal cell nevus syndrome

Back 37

germline PTC mutation

Hint 37

Shh receptor gene mutation

Front 38

Basal cell carcinoma

Back 38

somatic PTC mutation

Hint 38

Shh receptor gene mutation

Front 39

Situs inversus

Back 39

ZIC13

Hint 39

zinc finger gene mutation leads to reversal of organ system

Front 40

campomelic dysplasia

Back 40

SOX9 loss of function

Hint 40

SOX has homology with SRY; sex reversal (female XY); bent limbs, underdeveloped thorax

Front 41

Craniosyntosis syndromes

Back 41

FGF2 mutations

Hint 41

malformed faces

Front 42

female pseudohermaphroditism

Back 42

CYP21 mutation at 6p21

Hint 42

21-hydroxylase deficiency shunts hormone production to testosterone

Front 43

Robbin sequence

Back 43

n/a

Hint 43

posterior displacement of tongue, impairment of closure of posterior palatal shelves

Front 44

Potter syndrome

Back 44

n/a

Hint 44

a sequence that results from oligohydramnios

Front 45

Mermaid syndrome

Back 45

n/a

Hint 45

a sequence of deformations that result from diversion of nutrients from caudal structures due to vascular alterations

Front 46

DiGeorge/Velocardial facial syndrome

Back 46

22q11.2 microdeletion

Hint 46

palatal/pharyngeal insufficiency; learning problems; dysmorphic face; parathyroid hypoplasia; thymus hypoplasia; cardiac defects; renal and urinary tract defects

Front 47

VATER/VACTERL

Back 47

n/a

Hint 47

associations

Front 48

Smith-Lemli-Opitz Syndrome

Back 48

DHCR7 gene on 11q

Hint 48

7-DHC reductase deficiency