Mutation Analysis In RECQL4Gene In A Patient With Congenital Poikiloderma

Objective: To detect the mutations in RECQL4gene in one individual with congenitalpoikiloderma.Methods: Blood specimens were collected from a sporadic patient with congenitalpoikiloderma and80unrelated normal control individuals. DNA was extracted, allexons of RECQL4gene were amplified using polymerase chain reaction (PCR).Direct sequencing was performed, mutations in RECQL4were identified by BasicBLAST program.Results: According to the clinical features, the patient was diagnosed as congenitalpoikiloderma. A compound heterozygotes mutation in the RECQL4gene, c.3014G>A(p.Arg1005Gln) in exon17and c.3504-3505_delCG(p.Ile1167MetfsX1) in exon20,was found in the patient. Meanwhile, neither of the two mutations was observed in80unrelated normal control individuals.Conclusions: A novel compound heterozygotes mutation, c.3014G>A (p.Arg1005Gln)in exon17and c.3504-3505_delCG(p.Ile1167MetfsX1) in exon20in the RECQL4ispresent in the sporadic patient with congenital poikiloderma. It need furtherinvestigates to clarify the specific correlation between phonetype and genotype ofcongenital poikiloderma.