PMC7198756_01
Results of imaging tests and genetic tests, alignment of amino acid sequences, and a schematic of gene structure and protein structure. (A) Chest plain film indicated double-lung texture growing thick and heavy. (B) CT images showed an increasing density of patchy shadows with blurry margins (arrows). (C) The brain MRI showed no abnormalities. (D) The results of CNV-Seq from the patient's genomic DNA sample (q11.22-q11.23 deletion on chromosome 10 is shown in the box). (E) Sanger sequencing of the CHAT gene showed the hemizygous mutation c.1976A>T (p.Gln659Leu) in the proband, absence of the mutation in the mother and heterozygous mutation in the father.
fped-08-00185-g0001.jpg
PMC7198756_02_fped-08-00185-g0001.jpg
F1
Construction Kit was used to capture and construct the library, and a paired-end sequencing strategy was used. CNV-Seq indicated a 4.9 Mb deletion [10q11.22-10q11.23 (chr10: 46123781-51028772)], which contained the whole CHAT gene (Figure 1D). The whole-exome sequencing validated by Sanger sequencing indicated that the patient carries a hemizygous mutation in exon14 of CHAT (c.1976A>T, p.Gln659Leu), which is inherited from her father (Figure 1E).
PMC7198756_02
Results of imaging tests and genetic tests, alignment of amino acid sequences, and a schematic of gene structure and protein structure. (A) Chest plain film indicated double-lung texture growing thick and heavy. (B) CT images showed an increasing density of patchy shadows with blurry margins (arrows). (C) The brain MRI showed no abnormalities. (D) The results of CNV-Seq from the patient's genomic DNA sample (q11.22-q11.23 deletion on chromosome 10 is shown in the box). (E) Sanger sequencing of the CHAT gene showed the hemizygous mutation c.1976A>T (p.Gln659Leu) in the proband, absence of the mutation in the mother and heterozygous mutation in the father.
fped-08-00185-g0001.jpg
PMC7198756_02_fped-08-00185-g0001.jpg
F1
Construction Kit was used to capture and construct the library, and a paired-end sequencing strategy was used. CNV-Seq indicated a 4.9 Mb deletion [10q11.22-10q11.23 (chr10: 46123781-51028772)], which contained the whole CHAT gene (Figure 1D). The whole-exome sequencing validated by Sanger sequencing indicated that the patient carries a hemizygous mutation in exon14 of CHAT (c.1976A>T, p.Gln659Leu), which is inherited from her father (Figure 1E).