Genes Related to Mitochondrial Functions, Protein Degradation, and Chromatin Folding Are Differentially Expressed in Lymphomonocytes of Rett Syndrome Patients

Table 1

Demographic and genetic data for RTT patients enrolled in study.

No.	Age	Stage	Mutation type	Nucleotide change	Amino acid change
#1	7	3	ETMs
#2	10	3	missense	c.403A>G	p.K135E
#3	9	4	missense	c.403A>G	p.K135E
#4	9	4	missense	c.455C>G	p.P152R
#5	12	3	missense	c.473C>T	p.T158M
#6	19	3	nonsense	c.763C>T	p.R255X
#7	22	3	frameshift insertion or deletion	c.806_807delG	p.G269fs
#8	7	4	nonsense	c.808C>T	p.R270X
#9	7	3	nonsense	c.808C>T	p.R270X
#10	12	4	nonsense	c.880C>T	p.R294X
#11	6	3	nonsense	c.880C>T	p.R294X
#12	11	3	missense	c.916C>T	p.R306C

ETMs: early truncating mutations.