Table 4. Molecular characterization of the genetics defects

FamilyCaseMolecular defectCodon changeNo of mutated SCR
Homozygous deficiencies
A: 2 first cousins1899 TAT → TAATyr899Stop homozygous15
2899 TAT → TAATyr899Stop homozygous15
B: 2 brothers3127 CGT → CTTArg127Leu homozygous2
4127 CGT → CTTArg127Leu homozygous2
C5431 TGT → AGTCys431Ser homozygous7
D6673 TGT → TCTCys673Ser homozygous11
Heterozygous deficiencies
E7924 CAG → TAGGln924Stop heterozygous15
F8767 AAC → AA(+A) C+A at 2303pb → 774Stop heterozygous13
G9124 ATT → AT(−25bp) G−25 bp at 371 bp → 136Stop heterozygous2
H10915 TGC → AGCCys915Ser heterozygous15
I11893 CAT → CGTHis893Arg heterozygous15
J12673 TGT → TATCys673Tyr heterozygous11
K131199 TTT → TCTPhe1199Ser heterozygous20
L141183 TGG → TTGTrp1183Leu heterozygous20
M15893 CAT → CGTHis893Arg heterozygous15
Undetermined deficiency
N16400 CAA → AAAFather and Mother: Gln400Lys heterozygous7