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Table 2 Clinical information on patients with STK3 variants

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

Case number Pt1 Pt2 Pt3 Pt4
Sex Female Male Female Male
Variant chr8: 99,591,666-99,678,567 87 kb, exons 7-8 del chr8: 99,883,084-100,026,306a 143 kb, exons 1-3 del chr8: 99,638,463-99,719,599 81 kb, exons 5-6 del chr8:99,524,409-99,546,574a 22 kb, exon 10 del
Confirmation method FISH FISH, PCR + Sanger High-density CGH array PCR + Sanger
Affected genes STK3 STK3, OSR2 STK3 STK3
Inheritance De novo De novo Unknown Unknown
Parental studies FISH FISH N/A N/A
Developmental delay/intellectual disability N/A + N/A +
Multiple congenital anomalies + N/A Skull, face, and neck anomalies N/A
Other Dysmorphic features Radioulnar synostosis, hypospadias N/A Failure to thrive, hypotonia
  1. aCNV coordinates obtained using PCR and Sanger sequencing of breakpoint junction
  2. N/A not available