Term
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Definition
AD
Haploinsuffiency. Pleiotropy. LMX1B gene
Test: Southern Blot
Nail and elbow dysplasia.
Messed up patellae. |
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Term
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Definition
AD
Mutation in pG380R of FGFR
Gain of function. De novo mutation
Lumbar Lordosis. Foramen magnum compression.
prenatal Onset |
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Term
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Definition
AD
Altered protein function(Gain)
CAG expansion(coding) in HTT protein.
Paternal Expansion Bias
Death of motor neurons.
Death ~15 years from age of onset
Disease 40+ repeats. N-terminal expansion of glutamine |
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Term
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Definition
Gross deletion in chromosome 7q11.23
(contingous gene deletion, deletion effecting more then 1 gene)
Loquacious personality. Language > Cognitive.
Duplication in same area -> language delay, strong spatial skills |
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Term
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Definition
3700 kb deletion on chromosome 17
Broad square-shaped face.
Duplication causes Potocki-Lupski syndrome(PLS) |
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Term
| Charcot-Marie-Tooth Disease |
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Definition
AD
Genetic Heterogeneity(single phenotype caused by different mutations)
Duplication of PMP22
Progressive distal muscle weakness and wasting. Hyporeflexia |
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Term
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Definition
Null mutations in PMP22 generally cuase HNPP
CMT1A is duplication of PMP22 |
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Term
Hereditary Neuropathy With liability to Pressure Palsies(HNPP)
AD |
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Definition
Null mutation in PMP22.(major component in mylenin)
Evidence of demyelination
Repeated focal pressure neuropahties.
prolongation of distal nerve conduction latencies |
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Term
| Spinocerebellar Ataxia(SCA) |
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Definition
AD
CAG Paternal expansion. Gain of function
Degeneration of Cerebellum |
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Term
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Definition
XR
Deficiency of hypoxanthine…(HPRT)
Disruption of feedback loops increases uric acid and purines
Self-mutilation. Purine Metabolism problem. |
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Term
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Definition
Locus heterogeneity.(mutations in the same gene cause same phenotype)
Abnormal response to anaesthetic.
Must test before surgery. |
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Term
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Definition
AR
Age at onset: childhood
Test: PCR. (ASO Dot blot)
Hetero-zygote advantage
Pleiotropy(One mutation, many effecs)
Anemia, Infarction, Asplenia
Mutation in B-globin |
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Term
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Definition
XR
Age at onset: Infancy to adult
Defect in Factor 8.
Intrachromosomal recombination
Transposable element insertion
Bleed daithesis, hematomas. |
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Term
DiGeorge Syndrome
(22q11 Deletion syndrome)
De nova |
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Definition
Large deletion in 22q11 region.
Detected with FISH
VSD
Short stature, prominent nose, cleft lip
Absent or malformed kidneys |
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Term
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Definition
Null mutation in B-globin gene
DNA sequencing test |
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Term
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Definition
XR
DMD is total lack of dystrophin: Deletions, frameshift, nonsense.
BMD partial function dystrophin: In-frame deletions |
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Term
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Definition
AR
Excess of beta(b) or gamma chain.(y)
Heterozygous Advantage
Functional Globin genes:
normal: 4
Silent carrier: 3
a+-thal(mild anemia): 2
HbH disease: 1: moderate anemia, jaundice. B-tetramers
hydrops fetalis: 0: Severe aneamia, death in utero. y-tetramers |
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Term
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Definition
Phenotypically similar to Hb H
Mutation of the normal stop codon in a-globin gene product. Longer unstable protein. |
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Term
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Definition
AR
Unequal crossing over. Resulting in change of o-promoter being attached to B-globin.
B-globin produced at low level of o
Anti-lepore is normal |
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Term
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Definition
Deletion of o- and b- genes removes promoter elements that LCR would interact with.
y chain production continues post-nataly |
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Term
| B-thalassaemia nomenclature |
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Definition
B+-thal - Residual B-globin synthesis (leaky mutations)
B0-thal - No B-globin syntehsis(major mutations) |
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Term
| Fibrodysplasia Ossificans progressiva(FOP) |
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Definition
Gain of function mutation (R206H)
AD |
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Term
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Definition
Mutation in Type 1 Collagen.
Type 1 OI: Null mutations, haploinsufficiency
Type 2-4: Missense, Dominant Negtative. |
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Term
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Definition
Mutation in type 2 collagen.
Mutation that results in premature termination codon. PTC. Nonsense mutation. |
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Term
| Fragile X Syndrome(FRAXA) |
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Definition
XD
Null mutation. Xq27.3
2nd only to downsyndrome as genetic cause of retardation
CGG in 5' UTR. 200+ repeats = pathogenic. Less then 200 = premutation
Maternal Expansion Bias
Long face, Prominent jaw, large ears.
Hyper activity, Tantrums - prepuberty
Change in behavior after puberty. shyness, gaze averion. |
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Term
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Definition
AR
Null mutation
GAA in Intron. Pathogenic = 200-1700
Muscle Weakness in arms, legs. Vision hearing and speech problems.
Children diagnosed: 5-15
No anticipation. Age of onset and severity associated with smaller allele.
Frataxin needed for heme biosynthesis
Reduce funcion of respiratory comples 1-3 |
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Term
| Myotonic Dystrophy 1(DM1) |
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Definition
AD
Altered RNA function(gain of function)
CTG in 3'utr DMPK gene. pathogenic = 50
Maternal Expansion bias. Anticipation through mother
Narrow face. Myotonia. Cataract
Affected kids(open triangle mouth) |
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Term
| Myotonic Dystrophy 2(DM2) |
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Definition
AD
Altered RNA function(gain of function)
CCTG intron 1 ZNF9gene pathogenic = 50
Maternal Expansion bias |
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Term
| Spinocerebellar Ataxia(SCA) |
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Definition
Altered protein function(Gain of function)
AD
CAG in coding.
Paternal expansion bias
Degeneration of Cerebellum and its afferet and efferent connections
Age dependent penetrance. Older = more symptoms |
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Term
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Definition
XD
MECP2 mutation.
Leading cause of profound mental retardation in females.
Hand ringing |
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Term
Vitamin D-resistant rickets
(X-linked hypophosphatemia) |
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Definition
XD
Vitamin D insufficiency.
Can not ingest vitamin D to treat. |
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Term
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Definition
Paternally inherited.(maternal imprinting)
20-30% are from uniparental disomy
Absense of snoRNA(HBII-85) may be cause.
Floppy, did not feed at birth.
Hyperphagia and obesitiy. Hypopigmentation |
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Term
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Definition
Maternally inherited(paternal imprinted)
Frequent laughter. Absent speech. Seizures. Ataxia
point mutation UBE3A(ubiquitin-protein ligase) mutated. |
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Term
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Definition
GSa subunit of heterotrimeric GTP-binding protein that couples hormonal stimulation to adenylate cyclase
AHO - heterozygous loss of function mutation (PPHP)
PHP1a - AHO + hormone resistance when mutation is on maternal allele due to imprinting of GNAS expression in proximal tubule
PHP1b - imprinting defect resulting in hormone resistance w/o AHO
McCune-Albright - somatic gain of function mutation. Similar mutations
can cause endocrine tumours. |
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Term
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Definition
XR
Deficency of hypoxanthine...(HPRT)
Disruption of feedback loops increases uric acid and purines.
Self mutilation |
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Term
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Definition
Autosomal Recessive
Founder effect - Ashkenazi Jews
Low Hex-A levels. Cherry red spot in eye
Four base insertion of TATC |
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Term
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Definition
Phenylalanine hydroxylase deficiency
Autosomal Recessive.
Allelic & locus heterogeneity
Loss of melanin.
Toxic effects of phenylpyruvate
have problems if mother was homozygous. Uses mothers liver until birth
Also cosed by deficiency of BH4. (required for neurotransmiter syntehesis |
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