Table 3 Detailed molecular characterization of MALNS patients: seven patients were previously reported, and nine patients are new reports
Patients | NFIX variants | Aminoacid change | Microdeletions | |
|---|---|---|---|---|
1 | Priolo 2018 | c.[28-1G>A;28-12T>A;28- 13T>A] | p.Asp10ProfsTer5 | – |
2 | Present report | c.95delA | p.Asn32ThrFsTer25 | – |
3 | Present report | c.143T>A | p.Met48Lys | – |
4 | Priolo 2012 | c.157_177del | p.Glu53_Glu59del | – |
5 | Gurrieri 2015 | c.191delA | p.Lys64SerfsTer30 | – |
6 | Present report | c.198dup | p.Glu67ArgfsTer60 | – |
7 | Gurrieri 2015 | c.347G>C | p.Arg116Pro | – |
8 | Present report | c.370_372delinsA | p.Asp124fsTer | – |
9 | Gurrieri 2015 | c.373A>G | p.Lys125Glu | – |
10 | Present report | c.382C>T | p.Arg128Trp | – |
11 | Priolo 2018 | c.499C>A | p.His167Asn | – |
12 | Present report | c.599_602delATAG | p.Asp200ValfsTer18 | – |
13 | Priolo 2018 | c.859_860insG | p.Glu287GlyfsTer5 | – |
14 | Present report | c.1021del | p.His341ThrsTer52 | – |
15 | Present report | – | – | Microdel 19p13.2—687–793 Kb (CACNA1A deleted) |
16 | Present report | – | – | Microdel 19p13.2 – 134 Kb |