Mutation analysis in a pedigree with Rothmund-Thomson syndrome / 中华皮肤科杂志

Objective@#To detect gene mutations in a pedigree with Rothmund-Thomson syndrome (RTS) .@*Methods@#Clinical data were collected from two patients (an older sister and a younger brother) and their family members in a Chinese pedigree of Han nationality with RTS. Blood samples were obtained from the two patients, their unaffected older brother, their parents and 100 unrelated healthy controls. DNA was extracted, and all the exons in the encoding area of the RECQL4 gene were amplified by PCR. Gene mutations were detected by a skin-targeted next-generation sequencing panel, and verified by Sanger sequencing.@*Results@#Two heterozygous mutations were identified in the RECQL4 gene of the two patients, including a splice site mutation c.2886-1G>A and an insertion mutation c.1013_1014insC, which were inherited from the father and mother of the patients respectively. Meanwhile, neither of the two mutations was observed in 100 unrelated healthy controls or the older brother of the patients.@*Conclusion@#The splice site mutation c.2886-1G>A and the insertion mutation c.1013_1014insC in the RECQL4 gene may contribute to the clinical phenotype of the patients in this pedigree with RTS.

Mutation analysis in a pedigree with Rothmund-Thomson syndrome / 中华皮肤科杂志

Objective To detect gene mutations in a pedigree with Rothmund-Thomson syndrome (RTS).Methods Clinical data were collected from two patients (an older sister and a younger brother)and their family members in a Chinese pedigree of Han nationality with RTS.Blood samples were obtained from the two patients,their unaffected older brother,their parents and 100 unrelated healthy controls.DNA was extracted,and all the exons in the encoding area of the RECQL4 gene were amplified by PCR.Gene mutations were detected by a skin-targeted next-generation sequencing panel,and verified by Sanger sequencing.Results Two heterozygous mutations were identified in the RECQL4 gene of the two patients,including a splice site mutation c.2886-1G＞A and an insertion mutation c.1013_1014insC,which were inherited from the father and mother of the patients respectively.Meanwhile,neither of the two mutations was observed in 100 unrelated healthy controls or the older brother of the patients.Conclusion The splice site mutation c.2886-1G＞A and the insertion mutation c.1013_1014insC in the RECQL4 gene may contribute to the clinical phenotype of the patients in this pedigree with RTS.

Mutation analysis in RECQL4 gene in a patient with Rothmund-Thomson syndrome / 中华皮肤科杂志

Objective To detect the mutations in RECQL4 gene in a Chinese patient with Rothmund- Thomson syndrome (RTS). Methods Blood samples were collected from a sporadic patient with RTS, his unaffected parents and 30 unrelated population-matched controls. DNA was extracted, and all the coding sequences of RECQL4 gene were amplified by PCR. Direct sequencing was performed with the amplicons to detect the possible mutations in these subjects. Results Two mutations, i.e., IVS11-1G > A and 3401 A >T, which resulted in a premature termination codon at amino acid 560, were found in the RECQL4 gene of the patient. His father was heterozygous for IVS11-1G > A, and his mother for 3401 A>T. Meanwhile, neither of the two mutations were observed in 30 unrelated normal control individuals. Conclusion Two mutations, including IVS11-1G>A and 3401 A>T are present in the RECQL4 gene of the sporadic patient with RTS.