Disease Mutation Symptoms Diagnosis/Prognosis

Dawn syndrome 47, XY, + 21 Craniofacial features, Protruding furrowed

(Trisomy 21) tongue, Open mouth, Brushfield eye spots, Small
ears, wide set eyes, Loose skin, Palm crease,
Mental disability, low mortar skiills, short stature,
Epicanthic folds, Round face

Patau Syndrome 47,XY, +13 Mental disorder, Microcephaly, Cleft lip/palate,

(Trisomy 13) low set malformed ears, loose skin, flexion of
fingers, extra fingers, clenched hands ,
undescended testis, eyebrows absent

Turner Syndrome 45, XO Epicanthic folds, Down-slanting palpebral

fissures, Flat nasal bridge, Receding chin, Lowset
ears, Excessive nuchal skin folds, Webbed neck,
Hypogonadism, Infertility, Short stature, Minimal
breast, Wide nipples, No menstruation, Horse-
shoe kidney

Klinfelters 47, XXY Low IQ, Delayed speech, Poor memory, Psycho-
syndrome social adjustments, Hypogonadism,
Gynecomastia, Infertility, Reduced facial/pubic
hair, Long limbs

Wolf Hirschhorn 4P deletion

syndrome

Cri-du-chat 5P deletion High pitched cry, downward slanting eyes, Low

Syndrome weight, Slow growth, Low/abnormal ears,
Webbed fingers, Mental disability, Slow mortar
skills, Small head, Small jaw, Wide set eyes

Edward 47, XY, +18 Prenatal growth deficiency, small ear and mouth,
syndrome characteristic facial, Retrognathia, Clenched
hand, overlapping fingers, big short toes, Nail
hypoplasia, Rocker bottom feet, Umbelical
hernia, Short sternem
Phenylketonuria 12q22-q24.2 Phe hydroxylase (PAH) activity reduced, Phe-Tyr Early diagnosis, Screen blood
conversion disrupted, Phe accumulate, Phenyl regularly for Phe
pyruvate in urine, Learning and behavioural concentration// Diet
disability, epilepsy, eczema, vomiting, jerking,
tremors, mood swing, microcephaly
Lesh Nyhan X-linked (Hypoxanthine guanine phosphoribosyl Blood, Urine has High Uric
Syndrome HGPRT1 transferase – converts Hypoxanthine to inosine acid- spot test. Skin biopsy
deficiency monophosphate and G to G monophosphate by has low HGPRT, Prenatal
transferring 5-phosphoribosyl 1-pyrophosphate DNA by amniocentesis and
to Purines in salvage pathway) Disruption of CVS // Only symptoms
Purine metabolism, Uric acid build up, treated
Neurological disability, self injury, Irritability,
Hyperuricamea, Jerks, Joints, Balance, Swallowing
problems, Hypertonia, Delayed puberty, Renal
failure, Testicular atrophy, Aggression In Males.
Asymptomatic or only Gout in females.
Galactosemia Chr 9 – Leloir pathway disrupted, Galactose not Prenatal via amniocentesis
Galactose-1- converted to glucose, GALK – Gal to Gal-1-P; or CVS, post natal via blood
phosphate GALT- Gal-1-p to Glu-1-p; GALE – UDP-Glu to from heel for GALT
uridyltransfe UDP-Gal. Gal accumulated and converted to concentration. // No
rase (GALT) Galactitol. Galctosemia in blood, Galactosuria in treatment, at maturation
or Chr 17 - Urine. Weight loss, Hepatosplenogamy, Jaundice, alternative enzymes
Galactokinas Mental retardation, Cataract (severe). develop, Diet to avoid Gal.
e (GALK) or
Chr 1 -
Uridine
diphosphate-
galactose-4-
epimerase
(GALE)
Testicular Xq11-Xq12 Due to lack of AR, Testosterone produced by SRY Determine exact mutation
feminization coding for on Y Chr cannot bind to its receptor and male sex on AR gene, karyotyping for
syndrome/ androgen organs don’t develop XY in girls, suspect in femals
Androgen receptor Male pseudo-hermaphroditism in phynotypic with inguinal hernias, labial
insensitivity gene (AR) is women without uterus, pubic and axillary hair. masses. // Symptom
syndrome (Male inactivated Genetically male (XY) with negative sex treatment – sex assignment,
Hypogonadism) chromatin. Testis may appear intra-abdomenal or genitoplasty, gonadectomy,
as hernia, AR on sertoli cells don’t respond to hormone replacement
testosterone, it can’t form spermatogonia and therapy, counseling
spermatozoa. Leydig cells hyperplasia. Risk of
gonad malignancy and testis tumor after puberty.
Completely insensitive CAIS – External female
genitals, no internal female organs
Partially sensitive PAIS – Genitals in spectrum
Mildly sensitive MAIS – Impaired masculinization
Adult polycystic PKD1- Renal tubules develop fluid filled sacs cysts from Ultrasonography, CT, MRI,
kidney 16p13.3 and epithelia nephrons and renal collecting system, Mutation screening, Linkage
PKD2-4p21 harmless until cyst grows and affects kidney = 5 analysis from blood sample
(Autosomal stages. Back pain, headache, UTI, Kidney stones, // Tolvaptan as aquaretic
dominant or BP, Blood urine, Brain aneurysm. medication to slow kidney
recessive) volume, analgesic, renal cyst
aspiration, laproscopic
removal, dialysis, transplant
Albinism / (Autosomal Little/no melanin production in melanocytes (a Nitisinone drug to increase
Achromasia recessive, type of keratinocyte) due to tyrosinase (Tyr to melanin production in
polygenic) Melanin) inactivity, Susceptible to skin cancer OCA1b .
aabbcc (especially squamous cell (outer skin) and basal
cell (deeper skin) carcinoma), Premature skin
aging, nystagmus (eye fluttering due to
oversaturation of light), partial/complete
blindness.
Oculocutaneous (OCA – Eyes and Skin).
OCA1a- TYR mutation, complete absence of
melanin.
OCA1b- TYR mutation, Less melanin, increase
with age
OCA2- OCA2 Mutation, reduction of melanin,
hair-yellow blonde, in African and native
Americans
OCA3- TYRP1 mutation, Reddish brown patches
on dark skin, reddish hair, hazel/brown eyes
OCA4- SLC45A2 mutation, same as OCA2, but in
East Asians.
Duchenne Dystrophin Absence of dystrophin (major element of muscle Symptoms appear at 4,
muscular gene Xp21 fiber) permits excess Ca2+ to penetrate unable to walk by 12.
dystrophy (X-linked sarcolemma. Common in males, in fameless due Prenatal testing –
recessive) to DMD father+ carrier mother or inactivated X. Ultrasound/free fetal DNA
Dystrophin replaced by fat/connective tissue - test. Genetic testing at birth
Pseudohydropathy (muscle loss), scoliosis, (muscle specific isoform of
muscle fiber disarray, muscle death, Dystrophine gene has 79
cardiomyopathy, respiratory impairment, can’t exons), muscle biopsy (for
swallow, pneumonia, immunohistochemistry,
immunocytochemistry,
immunoblotting for
dystrophin) or high level of
creatine kinase in blood,
positive Gower’s sign // No
cure, gene therapy,
costicosteroids (short term –
2y), physiotherapy,
respiratory support,
pacemaker
Cleft lip and (Multifactori
palate al)
Leber’s MT-ND Sudden bilateral painless vision loss, blurring and LHON Family history, neuro-
hereditary optic 1,4,4L,6 clouding, then loss of acuity (sharpness), then ophthalmological evaluation
neuropathy (Mitochondri growing sense central scotoma (blind spot), then (dilated fundus exam to spot
al – only by optic atrophy, legally blind. Rare: heart optic disc and vascular
mother). arrhythmias, neurologic, multiple sclerosis changes) and mtDNA test b
MTND code blood sample // Idebenone
for NADH (Raxone) antioxidant,
Dehydrogena supportive visual care
se for oxy
phosphorylat
ion (Exact
mutation for
LHON is
unknown)