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. 2019 Nov 25;10(12):967. doi: 10.3390/genes10120967

Figure 2.

Figure 2

Molecular findings of individuals 1 and 2. (a) Electropherograms showing DNA sequencing analysis of PCR product amplified with primers targeting exon 8 of TNXB. Nucleotide sequences are provided. The position of the identified variant is indicated with an asterisk. (b) Protein sequence alignment of TNXB generated by Clustal Omega showed that the affected Gln 2760 residue of tenascin-X is evolutionary conserved. (c) Bar chart generated by Coffalyser.net- MLPA analysis software. MLPA was performed on DNA from the individual 1, her unaffected parents and controls (data not showed). A probe ratio of 1 indicates a normal DNA copy number; a probe ratio of 0.5 indicates a heterozygous deletion. MLPA analysis reveals a deletion of exon 5 of TNXB in individual 1. (d) Profiles of qPCR assay performed to map the deletion breakpoints within the region encompassing the exons 3 to 8 of TNXB. Relative DNA quantity of each exon was determined for the patient (red), her asymptomatic mother and father, (green and purple, respectively), and a pool of DNA controls (CNTs, orange). (e) Results of chromosomal microarray analysis in the Individual 1. Intensity data (Summarized log 2 ratio value) of each probe is drawn along chromosome 6 from 32,000 to 32,080 kb (USCS Genome Browser build February 2009, hg19). The red box indicates the interstitial microdeletion (62 probes with decreased signal) identified, encompassing the exons 5 and 6 of the TNXB gene (lower panel). (f) Electropherograms showing cDNA Sanger sequencing of a transcript region of TNXB amplified with primers targeting exon 3 to 8 of Individual 1 and her mother. (g) Sanger sequence of a PCR product amplified with primers targeting exon 3 of TNXB of individual 2 and her unaffected parents. The position of the identified variant is indicated with an asterisk. (h) Bar chart generated by Coffalyser.ne-MLPA analysis performed on DNA from the individual 2, her unaffected father and controls (data not showed). MLPA analysis reveals the common partial deletion of exon 35 of TNXB in individual 2.