Table 1 Molecular variability and CRIM status of patients included in our study
Patient | Gender | CRIM | Molecular |
|---|---|---|---|
1 | Female | Positive | Homozygous missense mutation at codon 702 for Arginine c.[2104 C > T]; [2104 C > T] and (p.[Arg702Cys]; [Arg702Cys]). |
2 | Male | Negative | Homozygous missense mutation at codon 854 for Arginine [2560 C > T] (p.[Arg854Ter]) |
3 | Male | Negative | (Homozygous missense mutation at codon 335 for Leucine c.[1064T > c]; [ 1064T > c] and (p.[Leu335Pro]; [Leu335Pro]) |
4 | Female | Negative | (Homozygous frameshift mutation c.1464upc(p.(Asp489Argfs*17))., |
5 | Male | Negative | Missense mutation in two variants p.Gly665, p.Gly665Arg) |
6 | Male | Negative | Homozygous missense mutation at codon 854 for Arginine [2560 C > T] (p.[Arg854Ter]) |
7 | Female | negative | Homozygous non sense (stop) mutation in c.2560 C > T [p.(Arg854*)] |
8 | Male | positive | Compound heterozygous mutation in (c,-32-13T > G) and c,1856G > A [p.Ser619Asn)]. |