Table 2. Details of Variants Identified.
| ID | Gender | Gene | Inheritance | Variants | Phenotype MIM number | Clinical comments | Allele frequency ExAC (All, EAS) | |
|---|---|---|---|---|---|---|---|---|
| Pathogenic, Likely pathogenic | ||||||||
| D05 | Female | DHCR7 | AR | het | NM_001360.2:c.860delA (p.Asn287ThrfsTer6) | Smith-Lemli-Opitz syndrome (270400) | Edward syndrome, VLBW, gastroschisis, | 0.0000, 0.0000 |
| D10 | Female | PCCB | AR | het | NM_001178014.1:c.1364A>G (p.Tyr455Cys) | Propionic acidemia (606054) | VLBW, Hydrocephalus, Intraventricular hemorrhage, ileostomy | 0.0000, 0.0005 |
| D13 | Female | PCBD1 | AR | het | NM_000281.2:c.263G>A (p.Arg88Gln) | BH4 deficient hyperphenylalaninemia (264070) | ELBW, severe BPD | 0.0002, 0.0000 |
| D17 | Male | GAA | AR | het | NM_000152.3:c.752C>T (p.Ser251Leu) | Glycogen storage disease II (232300) | ELBW, meconium peritonitis, bowel perforation, severe BPD | 0.0003, 0.0029 |
| het | NM_000152.3:c.761C>T (p.Ser254Leu) | 0.0002, 0.0029 | ||||||
| D27 | Male | ALDOB | AR | het | NM_000035.3:c.1013C>G (p.Ala338Gly) | Fructose intolerance, hereditary (229600) | LBW | 0.0000, 0.0002 |
| D30 | Female | CYP21A2 | AR | het | NM_000500.7:c.955C>T (p.Gln319Ter) | Congenital Adrenal hyperplasia due to 21-hydroxylase deficiency (201910) | ELBW, ambiguous genitalia, mild BPD | 0.0000, 0.0000 |
| D33 | Female | SLC22A5 | AR | het | NM_003060.3:c.1400C>G (p.Ser467Cys) | Carnitine transporter deficiency (212140) | IUGR, CMV infection | 0.0002, 0.0021 |
| D37 | Female | GALT | AR | het | NM_000155.3:c.998G>A (p.Arg333Gln) | Galactosemia (230400) | IUGR, BPD, necrotizing enterocolitis, ileostomy | 0.0000, 0.0001 |
| D39 | Male | ATP7B | AR | het | NM_000053.3:c.2333G>T (p.Arg778Leu) | Wilson disease (253200) | Floppy infantile syndrome, hypoxic ischemic encephalopathy, Intracranial hemorrhage | 0.0002, 0.0023 |
| D43 | Male | CYP21A2 | AR | het | NM_000500.7:c.955C>T (p.Gln319Ter) | Congenital Adrenal hyperplasia due to 21-hydroxylase deficiency (201910) | Imperforate anus colostomy | 0.0000, 0.0000 |
| D46 | Female | GBA | AR | het | NM_001005741.2:c.754T>A (p.Phe252Ile) | Gaucher disease (230800) | VLBW, moderate BPD, neonatal apnea | 0.0000, 0.0000 |
| GAA | AR | het | NM_000152.3:c.2015G>A (p.Arg672Gln) | Glycogen storage disease II (232300) | 0.0000, 0.0001 | |||
| VOUS (variant of uncertain significance) | ||||||||
| D01 | Male | ACAD8 | AR | het | NM_014384.2: c.557A>G (p. Asn186Ser) | Isobutyryl-CoA dehydrogenase deficiency (611283) | Newborn sick baby | 0.0001, 0.0007 |
| het | NM_014384.2:c.1156_1158delCAG (p.Gln386del) | 0.0000, 0.0000 | ||||||
| D02 | Female | CFTR | AR | het | NM_000492.3:c.1942G>A (p.Asp648Asn) | Cystic fibrosis (219700) | VLBW, Patau syndrome | 0.0000, 0.0001 |
| D04 | Male | ABCD4 | AR | het | NM_005050.3:c.358C>G (p.His120Asp) | Methylmalonic aciduria and homocystinuria (614857) | Newborn sick baby | 0.0000, 0.0000 |
| MCCC1 | AR | het | NM_020166.3:c.203C>G (p.Ala68Gly) | 3-Methylcrotonyl-CoA carboxylase 1 deficiency (210200) | 0.0000, 0.0000 | |||
| D08 | Male | DHCR7 | AR | het | NM_001360.2:c.4G>A (p.Ala2Thr) | Smith-Lemli-Opitz syndrome (270400) | VLBW, moderate BPD, cerebellar hemorrhage | 0.0000, 0.0000 |
| D14 | Female | DMD | XLR | het | NM_004006.2:c.10465C>T (p.Arg3489Cys) | Duchenne muscular dystrophy (310200) | Hypotonia, Kabuki syndrome | 0.0000, 0.0002 |
| HAL | AR | het | NM_002108.3:c.995T>C (p.Ile332Thr) | Histidinemia (235800) | 0.0000, 0.0002 | |||
| D32 | Female | HAL | AR | het | NM_002108.3:c.1706C>T (p.Pro569Leu) | Histidinemia (235800) | ELBW, severe BPD | 0.0000, 0.0000 |
| D35 | Male | PEX2 | AR | het | NM_001172086.1:c.206T>C (p.Ile69Thr) | Peroxisome biogenesis disorder 5A (Zellweger)/5B (614866/614867) | Vomiting, Sepsis, Pneumomediastinum | 0.0000, 0.0000 |
| D39 | Male | GALC | AR | het | NM_000153.3:c.199A>G (p.Thr67Ala) | Krabbe disease (245200) | Floppy infantile syndrome, hypoxic ischemic encephalopathy, intracranial hemorrhage | 0.0000, 0.0000 |
| D42 | Male | ASS1 | AR | het | NM_000050.4:c.1046T>G (p.Val349Gly) | Citrullinemia (215700) | Methicillin-resistant Staphylococcus aureus sepsis | 0.0000, 0.0000 |
MIM, Mendelian Inheritance in Man; ExAC, exome aggregation consortium; EAS, East Asian; AR, autosomal recessive; XLR, X-linked recessive; VLBW, very low birth weight (<1500 g); ELBW, extremely low birth weight (<1000 g); LBW, low birth weight (<2500 g); IUGR, intrauterine growth retardation; BPD, Bronchopulmonary dysplasia; CMV, cytomegalovirus.