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Table 4 Clinical information on patients with PTCHD1 variants

From: Identification of novel candidate disease genes from de novo exonic copy number variants

Clinical features Pt1 Pt2 Pt3
Gender Male Male Male
Variant chrX: 23,269,452-23,364,920 chrX: 23,395,713-23,487,393a chrX: 23,140,737-23,360,470a
95 kb, exon 1 deletion 92 kb, exons 2–3 deletion 220 kb, exon 1 deletion
Confirmation method N/A PCR + Sanger PCR + Sanger
Affected genes PTCHD1 PTCHD1 PTCHD1
Inheritance Mat Unknown Unknown
Parental studies CMA N/A N/A
ASD + N/A Autistic features
DD/ID + + +
ADHD + N/A +
Other Hypotonia, speech impairment N/A N/A
  1. a - CNV coordinates obtained using PCR and Sanger sequencing of breakpoint junction
  2. N/A not available, DD developmental delay, ID intellectual disability, Mat maternal