BioMed Research International

Research Article

Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG

Table 1

Clinical features of the nineteen patients with xeroderma pigmentosum.
Patient (code) Region of origin in Algeria Sex Age Age of onset (months) ConsanguinityClinical symptoms
PhotophobiaSkin lesionsTumorsNeurological abnormalities
XP01NorthwestM1712 1stD++++−
XP02NorthwestF1271stD+++++−
XP03NorthwestF721stD++−+
XP04NorthwestF15121stD+++−
XP05NorthwestM831stD++++
XP06NorthwestM11242ndD++++−
XP07NorthwestM15121stD+++++−
XP08NorthwestF10361stD+++−
XP09NorthwestM1481stD+++++−
XP10NorthwestF13361stD+++++−
XP11NorthwestM23121stD+++++−
XP12Middle WestM4241stD++−−
XP13NorthwestM10121stD++−−
XP14NorthwestF4121stD+++−
XP15NorthwestF6181stD++++−
XP16NorthwestM15361stD+++++−
XP17Middle WestM2512AC+++++−
XP18SouthwestF6241stD++−−
XP19Middle WestF6112ndD++−−
1stD: consanguinity first degree; 2ndD: consanguinity second degree; AC: absence of consanguinity.
−: absence of clinical symptoms; +: presence of clinical symptoms.