Table 2.
Summary of re-sequencing data in the coding regions of the HLX gene in congenital diaphragmatic hernia (CDH) patients
| HLX Exon | Nucleotide alteration |
Amino acid alteration |
Phenotype | Interpretation | Known SNP+ |
|---|---|---|---|---|---|
| 1 | c.35C>T | p.S12F | R CDH | Unknown | No |
| 1 | c.53C>T | p.S18L | R CDH | Unknown | No |
| 1 | c.346T>C | p.S116P | Varied CDH | SNP | Yes |
| 1 | c.375A>C | p.Q125H | CDH; 3/26 (11.5%) patients |
2/102 (1.96%) controls; SNP | Yes |
| 1 | c.C413insa | Insertion p.138 (PPQQQ) |
CDH; 2/26 (7.7%) patients |
6/146 (4.1%) controls; SNP | Yes |
| 1 | c.517G>T | p. D173Y | R CDH | Unknown | No |
| 2 | c.704C>T | p.A235V | L CDH; ASD/PDA | 0/140 Hispanic controls; 0/112 Caucasian controls; Unknown |
No |
| 2 | c.705A>C | p.A235A; Silent | NA | 3/140 (2.1%) Hispanic controls; SNP | No |
| 4 | c.1067C>T | p.P356L | CDH | SNP | Yes |
| 4 | c.1083G>A | p.E361E; Silent | NA | Silent Aa/SNP | Yes |
| 4 | c.1160C>G | p.A387G | CDH | SNP | Yes |
Aa, amino acid; ASD/PDA, atrial septal defect/patent ductus arteriosus; L CDH, isolated left-sided CDH; N, no; NA, not applicable; R CDH, isolated right-sided CDH; known SNP+, known single nucleotide polymorphism in dbSNP (http://www.ncbi.nlm.nih.gov/SNP/) or Ensembl (http://www.ensembl.org/index.html); Y, yes. Nucleotides are numbered from A in start codon = 1; transcript NM_021958 (http://www.ncbi.nlm.nih.gov/sites/entrez?db=nuccore=toolbar).
a
Gccgcagcaacagcc.