Familial CHARGE syndrome
| Reference | Fulfilling clinical criteria | Segregation | |||
| Sib-pairs | CHD7 mutation | Sib 1 | Sib 2 | ||
| 1. Wincent23 | c.4015C→T; p.R1339X | + (case 11a) | + (case11b) | Father no mutation | |
| 2. Pauli44 | c.7302dupA | + (girl) | + (boy) | Germline mosaicism in father | |
| 3. Lalani21 | p.W2332X | + (died) | − (case CHA76) | Parents no mutation | |
| 4. Jongmans37 | c.2442+5G→C | − (case 1) | + (case 2) | Mother no mutation | |
| 5. Jongmans37 | c.2520G→A; p.W840X | + (case 3) | + (case 4) | Somatic mosaicism in father | |
| 6. Jongmans37 | c.1610G→A; p.W537X | + (case 5) | + (case 6) | Parents no mutation | |
| 7. Jongmans20 | c.5982G→A; p.W1994X | + (case 29) | + (case 30) | Somatic mosaicism in mother | |
| Monozygotic twins | Twin 1 | Twin 2 | |||
| 1. Wincent23 | c.5428C→T; p.R1810X | + (case 13a) | + (case 13b) | De novo | |
| 2. Lalani21 | p.E1271X | + (case A) | + (case B) | Unknown | |
| 3. Jongmans20 | c.5752_5753dupA; p.T1918fs | + (case 26) | − (case 27) | Parents were not tested | |
| Parent–child | Child 1 | Child 2 | Parent | ||
| 1. Vuorela45 | c.4795C→T; p.Q1599X | + (case 1) | + (case 2) | − (case 3) | De novo in father* |
| 2. Delahaye43 | c.2501C→T; p.S834F | + (case A III-2) | + (case A III-3) | − (case A II-2) | De novo in mother |
| 3. Delahaye43 | c.469C→T; p.R157X | + (B III-1) | + (B III-3) | − (B II-2) | De novo in father |
| 4. Lalani21 | p.R2319S | − (case CHA166) | − | Unknown | |
| 5. Jongmans37 | c.6322G→A; p.G2108R | − (case 7) | − (case 8) | De novo in mother* | |
| 6. Jongmans37 | c.6322G→A; p.G2108R | − (case 9) | + (case 10) | − (case 11) | De novo in mother |
| 7. This study | c.7769del | − | − | − | Unknown |
| Total clinical criteria positive | Children 24/32 | Parents 0/7 | |||
+, Fulfilling the criteria; −, not fulfilling the clinical criteria of Blake et al and/or Verloes.9 10
↵* Somatic mosaicism was excluded (the CHD7 mutation was present in both peripheral blood lymphocytes and buccal cells).