PMC3892097_01
Alignment of gene sequences. Portion of the sequence of exon 3 of the GLA gene in Patient 2 (forward and reverse strands of the subject) aligned with the corresponding sequence of a healthy control (wt). The red arrow indicates the position of the mutation c.493 G > C (D165H in the protein). On the left, the sequencing gel image is shown.
1756-0500-7-11-1.jpg
PMC3892097_01_1756-0500-7-11-1.jpg
F1
Sequence analysis of the GLA gene in the patient, in comparison with the wild-type sequence (Figure 1), revealed a single nucleotide point mutation in hemizygosis at nucleotide c.493 G > C in exon 3 (D165H in the protein).
Genealogical tree of the family of the patient. The male patient (striped square) is the only member of its family of origin who had the mutation. In the next generation, his daughter harboured also the same mutation in heterozygosis (dotted circle).
1756-0500-7-11-2.jpg
PMC3892097_01_1756-0500-7-11-2.jpg
F2
We extended the genetic analysis to the family members of the patient (mother, sister and brother) (Figure 2) and none of them had any alteration in the GLA gene, suggesting a de novo mutation in the patient.
PMC3892097_02