Table 1A.
Female patients with point mutations identified by direct sequencing
| Family | Patients (proband) | Exon | Amino acid changes | Consequence at the protein level | Parents' analysis | Associated polymorphisms |
|---|---|---|---|---|---|---|
| 3 | N 09 0176 | 1 | c.242T>G | p.Leu81Arg | Unknown | none |
| 4 | N 09 0418 | 1 | c.415_423dup | p.Ser139_Ala141dup | Maternal inheritance | none |
| 5 | N 09 1326 | 1 | c.424delG | p.Ala142ProfsX70 | Unknown | none |
| 2 | N09 2861 | 1 | c.437C>G | p.Thr1 46Arg | Paternal inheritance | c.1627C>T/p.Leu543Leu |
| 6 | N 09 1568 | 1 | c.462C>A | p.Tyr154X | Unknown | none |
| 7 | N 09 1461 | 1 | c.514dupG | p.Glu172GlyfsX54 | Unknown (paternal inheritance expected) | none |
| 8 | N 05 1365 | 1 | c.617T>A | p.Phe206Tyr | Unknown | c.3447+8 T>C |
| 9 | N 08 1081 | 1 | c.697_700delinsTAAC | p.Asp233X | Paternal inheritance | none |
| 10 | N 08 1391 | 1 | c.747A>T | p.Glu249Asp | Maternal inheritance | c.1627C>T/p.Leu543Leu |
| 11 | N 09 1071 | 1 | c.1023C>G | p.Asp341 Glu | De novo | none |
| 12 | N 08 0696 | 1 | c.1682C>G | p.Pro561Arg | Paternal inheritance | none |
| 13 | N 09 1090 | 1 | c.1700C>T | p.Pro567Leu | Maternal inheritance | none |
| 14 | N 08 1063 | 1 | c.1852G>A | p.Asp618Asn | Maternal inheritance | c.1627C>T/p.Leu543Leu |
| 15 | N 09 1135 | 1 | c.2019delC | p.Ser674LeufsX2 | De novo (mosaicism in one parent?) | none |
| 1 | N 05 0550 | 4 | c.2656C>T | p.Arg886X | Maternal inheritance | c.1627C>T/p.Leu543Leu |