In addition, sequences of transcripts produced by the reference isolate (BFP-ToxAC), the sequenced nonpathogenic isolate (SD20-NP), and an additional pathogenic isolate (SO3-P) were analyzed.
In 11 STGD families and one CRD family, where an additional pathogenic change was found, correct segregation of the disease alleles was demonstrated (fig 3).
In our discovery sample we found only 1 of 13 cases to also carry an additional pathogenic CNV (a 15q11.2 deletion) and none out of the six controls.
Although we found no evidence for this among the TH mutants studied here, it might still be considered an additional pathogenic mechanism in vivo, as proposed for PD [Haavik and Toska, 1998; Nakashima et al., 2013].
Mapping of ESTs from the reference and an additional pathogenic isolate, SO3-P (Andrie et al. 2007), resulted in a greater number of mapping events than the number of input transcript reads, which indicated that there are transcripts of repeats being produced in the pathogenic isolates that map multiple times to the reference genome (Table S6).
(progesterone receptor) contains the biomedical SNP marker rs10895068 causing de novo appearance of a spurious TBP-biding site along with an additional pathogenic transcription start site (TSS) at position +270 relative to the normal TSS for transcript number 2 of the same gene.
Around a quarter of ID/DD patients with a 16p12.1 deletion also carry an additional pathogenic CNV (defined as a CNV associated with ID/DD or >500 kb) (15, 16) and in those that do so, the phenotype is more severe (16).
The study here reported suggests an additional pathogenic mechanism implicating a role for the different modification status of NE proteins; however, the pathogenetic significance of SUNs mislocalization in relation to the nature of prelamin A form accumulated in MADA is not obvious.
PCR screening of one of these candidate pathogenicity-related genes, PTRG_11888, among five additional pathogenic and two additional non-pathogenic isolates (Table S1), confirmed the association of this locus with pathogenic isolates regardless of race.
In addition, adenovirus cocirculates with enterovirus and has become a possible additional pathogenic factor for HFMD in some cases.
