Genetics Flashcards
Hamartomas are very characteristic of which condition?
Tuberose sclerosis
How might tuberose sclerosis present?
Infantile seizures
Tuberose sclerosis method of inheritance?
Autosomal dominant but new mutations are common
Ash leaf macule?
Tuberose sclerosis
Facial angiofibromas?
Tuberose sclerosis
-Develop in the first few years of life
Shagreen patches and enamel pitting?
Tuberose sclerosis
Mutations in TSC1 or TSC2?
Tuberose sclerosis
Keratin 5, Keratin 14, Laminins, Integrins, Collagen 17
Epidermolysis bullosa
Types of epidermolysis bullosa?
Simplex
Junctional
Dystrophic
Eye disease you might see in NF type 1?
Optic glioma
Filaggrin, interleukin 4, interleukin 13
Eczema
Mutations in filaggrin increase risks of what?
Eczema
Asthma
Hayfever
Peanut allergy
Photobiology
The study of non-ionising radiation on living systems
Triad of tuberose sclerosis?
Mental retardation
Seizures
Facial angiofibromas
(BUT remember nail involvement and the fact that this condition is because of TUMOURS growing everywhere!)
What do TSC -1 and TSC-2 code for?
Tuberin and hamartin (tumour suppressors or something I think). This would explain tumour formation seen in tuberose sclerosis
NF type 1
Café au lait Neurofibromas Plexiform neuroma - diffuse Axillary or inguinal freckling Optic glioma 2 or more Lisch nodules A distinctive bony lesion
Diagnosis of NF type 2
Clinical diagnosis of NF2 requires that an individual present with at least 1 of the following clinical scenarios[1] :
Bilateral vestibular schwannomas
A first degree relative with NF2 AND
Unilateral vestibular schwannoma OR
Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
Unilateral vestibular schwannoma AND
Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
Multiple meningiomas AND
Unilateral vestibular schwannoma OR
Any two of: schwannoma, glioma, neurofibroma, cataract
However, because approximately half of cases result from new mutations, family history is often negative.
Mutations in filaggrin increase your risks of what?
Increases risk of eczema 4X
Increases risk of asthma and hay fever ≈3X
Increases risk of peanut allergy 5X
Ichthyosis vulgaris
Mutation in filaggrin
- “fish scale” disease –> makes your skin look like fish scales
Mental retardation
Epilepsy
Cutaneous features
Tuberose sclerosis
The skin signs include adenoma sebaceum (reddish papules around the nose) Periungal fibroma Shagreen patches Ash-leaf hypopigmentation Cafe au lait patches There may be pitting of dental enamel
Tuberose sclerosis
DEFICIENCY OF GnRH No sense of smell (anosmia) Colour blindness Cleft palate Renal abnormalities
Kallmann’s syndrome!!
