Paediatric genetics Flashcards
Diseases diagnosed in NICU
Congenital anomalies
Eyes and ears
Diseases diagnosed in early childhood
Developmental
Diseases diagnosed at school age
Diseases with a family history
- PKD
- NF
- long QT
Gene mutations that cause extra fingers
HOX gene
Potter’s
Kidneys and lungs
Coverage
Repeating a sequence 30x
Assosciations
Not well understood
DDD project
Children with developmental disorders
What percentage of children in the DDD project had de novo pathogenic mutations?
76%
Unnecessary interventions could have been avoided in ____ of children with pathogenic mutations.
10%
Why is the diagnostic yield in autism so poor?
- likely due to polygenic and multifactorial factors
- gene interactions likely more important than individual genes
Low set ears
Trisomy 13 and 18
Polydactyl
Trisomy 13
Symptoms of mild velocardiofacial syndrome
Nasal speech and slightly myopathic faces
Which de novo dominant condition is more likely if the father is older?
Achondroplasia
RNU4-2 mutation
Developmental delay
Vision problems
Difficulty ambulating
RNU4-2
Non coding RNA involved in gene regulation
Describe RNU4-2 mutation inheritance
Usually de novo dominant
Always on the maternal allele
Most common RNU4-2 mutation
T insertion
