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

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

Patient	Gender	Age^a	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

GDD global developmental delay, HPE holoprosencephaly, PDA patent ductus arterio
^aAge at enrollment (d = day, y = year, m = month)

ISSN: 1479-7364