Skip to main content

Table 4 Pathogenic variants identified and the respective patients’ associated clinical features

From: Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

Patient Gender Agea Gene Nucleotide change Amino acid change Clinical features
1 M 1d CHD7 NM_017780.3:c.7891C > T p.R2631X Hypoplastic left heart, choanal atresia, oesophageal atresia
2 F 1y4m CHD7 NM_017780.3c.601C > T p.Q201X PDA, aortic stenosis, coloboma, hypotonia
3 F 3y9m MECP2 NM_004992.3:c.763C > T p.R255X Developmental delay, hypotonia, neurodevelopmental regression, epilepsy
4 F 2w SHH NM_000193.3:c.413C > A p.S138Y Alobar HPE, PDA, hypotelorism, single nostril, choanal atresia, overlapping fingers
5 M 5y11m TCF4 NM_001083962.1:c.1739G > A p.R580Q GDD, microcephaly, epicanthic folds, hypertelorism, drooling, no speech
6 F 5y8m TSC2 NM_000548.3:c.3364delC p.R1121Vfs*69 Bilateral large renal cysts, ballotable left kidney, cardiac rhabdomyoma, iris pigmentation & hamartomas, epilepsy
  1. GDD global developmental delay, HPE holoprosencephaly, PDA patent ductus arterio
  2. aAge at enrollment (d = day, y = year, m = month)