Table 1.
Clinical features of the first group of 23 patients with isolated congenital diaphragmatic hernia (CDH) and single nucleotide polymorphisms in the coding regions of HLXa
| Patient | CDH laterality |
Pulmonary hypoplasia |
Other anomalies |
Sex | Survival |
HLX Exon 1 SNPs |
HLX Exon 2 SNP |
HLX Exon 4 SNPs |
|---|---|---|---|---|---|---|---|---|
| 1 | L | Yes L | Nil | M | A | p.S116P | — | p.P356L/c.1083G>A |
| 2 | R | Yes R | Nil | M | A | — | — | p.P356L/p.A387G |
| 3 | R | No | Pectus excavatum | M | A | p.S116P | — | p.P356L/ c.1083G>A |
| 4 | L | No | Bilateral inguinal hernias | M | A | p.S116P | — | — |
| 5 | L | Yes L | PDA, ASD | M | A | — | c.705A>C | — |
| 6 | L | No | PDA | M | A | — | — | — |
| 7 | L | Yes L | nil | M | A | — | — | — |
| 8 | L | No | nil | M | D | — | — | p.P356L/p.A387G |
| 9 | L | No | PFO, TR | F | A | p.S116P | — | p.P356L/ c.1083G>A |
| 10 | R | Yes R | ASD, PDA, PFO, Cryptorchidism |
M | A | p.S116P | — | — |
| 11 | Bilateral | Yes | ASD, PDA, Dextroposition; Cryptorchidism |
M | D day 1 | — | — | p.P356L/ c.1083G>A |
| 12 | L | Yes L | 11 ribs; Bifid thumb | M | D day 18 | — | — | p.P356L/ c.1083G>A |
| 13 | L | Yes | PDA, TR, Cryptorchidism | M | A | p.S116P | — | — |
| 14 | R | Y R and | ASD; Hepatopulmonary fusion |
M | A | — | — | p.P356L/ c.1083G>A |
| 15 | Antral hernia | No | nil | F | A | — | — | p.P356L/p.A387G |
| 16 | R | Yes R | Cleft liver, VSD, bicuspid pulmonic valve, accessory spleen |
F | D 10 w | p.Q125H | c.705A>C | p.P356L/p.A387G |
| 17 | L | Yes L | Dextroposition, PDA, PFO | M | NA | — | — | p.P356L/p.A387G |
| 18 | L | No | Mild TR | F | A 8 m | p.Q125H | — | — |
| 19 | L | Yes | Pelviectasis; Cryptorchidism | M | NA | — | — | — |
| 20 | L | No | PDA | M | A | p.Q125H | — | p.P356L/p.A387G |
| 21 | L | Yes | PDA, PFO, TR, pyloric stenosis |
M | D44h | — | — | — |
| 22 | NA | No | Pectus excavatum; Cryptorchidism |
M | A 16 m | p.S116P | — | — |
| 23 | L | No | ASD; Hydronephrosis | M | NA | p.S116P | — | — |
A, alive; ASD, atrial septal defect; F, female; D, deceased; h, hours; L, left; R, right; M, male; m, months; NA, not available; PDA, patent ductus arteriosus; PFO, patent foramen ovale; SNP, single nucleotide polymorphism; TR, tricuspid regurgitation; VSD, ventricular septal defect; w, weeks. All hernias were posterolateral unless specified.
a
Nucleotides are numbered from A in start codon = 1; transcript NM_021958 (http://www.ncbi.nlm.nih.gov/sites/entrez?db=nuccore=toolbar).