Why do people get new mutations?
SCPI : A Case of Regressive Autism: New Mutation Found in the Child The Boy’s Story : 3/17/2004: Born 3/24/2005: “Normal healthy 1 year old boy”* 3/24: Vaccinated with MMR and Varicella 3/24-27: Cried for 3 days and began regressing 10/5: “Concerns about aggressive behavior and language loss”* *””Taken from Pediatrician’s notes 10/15/2012: Baylor College of Medicine reports new mutations in the boy
BCM sequenced a single de novo (the parents do not have this) nucleotide mutation in ADAM33, a protein important for cell to cell communication and nerve development. SCPI was asked to find out the functional consequences of this.
Normal ADAM33 Mapped the mutation Transcribed the DNA Pre-mRNA
Boy’s Mutated ADAM33
GTGAG G No Splicing after Exon 3
Spliced
GTGAA A
mRNA
Translated the DNA tRNA
Molecular Modeling of ADAM33 Protein
812 amino acids long
Only 84 amino acids long No disintegrin domain No metalloproteinase domain No growth factor domain
BCM sequenced a single de novo (the parents do not have this) nucleotide mutation in ADAM33, a protein important for cell to cell communication and nerve development. SCPI was asked to find out the functional consequences of this.
Normal ADAM33 Mapped the mutation Transcribed the DNA Pre-mRNA
Boy’s Mutated ADAM33
GTGAG G No Splicing after Exon 3
Spliced
GTGAA A
mRNA
Translated the DNA tRNA
Molecular Modeling of ADAM33 Protein
812 amino acids long
Only 84 amino acids long No disintegrin domain No metalloproteinase domain No growth factor domain
