Genetic analysis of a pedigree affected with X-linked adrenoleukodystrophy / 中华医学遗传学杂志

Objective@#To explore the genetic basis for a pedigree affected with X-linked adrenoleukodystrophy presenting as spastic paraplegia of the lower limbs.@*Methods@#Genomic DNA was extracted from peripheral blood samples of the patient and his mother. Potential variant was detected with a panel for genes associated with spastic paraplegia. Candidate variant was verified by PCR and Sanger sequencing.@*Results@#Both the proband and his mother presented with walking difficulty. A previously known variant, c. 623T>A (p.V208E), was identified in the ABCD1 gene mapped on chromosome X in both.@*Conclusion@#X-link adrenoleukodystrophy should be taken into account as a possible diagnosis for this pedigree.

Analysis of a patient with early-onset Parkinson’s disease and PARK7 gene variation / 中华医学遗传学杂志

Objective@#To explore the genetic basis of a patient with early-onset Parkinson disease from a consanguineous family.@*Methods@#Homozygosity mapping and Sanger sequencing of cDNA were used to identify the causative mutation.@*Results@#A homozygous missense variation (c.56C>G, p. Thr19Arg) in the PARK7 gene was identified in the patient. In silico analysis suggested the c. 56C>G variation to be pathogenic.@*Conclusion@#Homozygous c. 56C>G variation of the PARK7 gene was the disease-causing variation in this family.

A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia

No abstract available.

Analysis of a patient with early-onset Parkinson's disease and PARK7 gene variation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a patient with early-onset Parkinson disease from a consanguineous family.@*METHODS@#Homozygosity mapping and Sanger sequencing of cDNA were used to identify the causative mutation.@*RESULTS@#A homozygous missense variation (c.56C>G, p.Thr19Arg) in the PARK7 gene was identified in the patient. In silico analysis suggested the c.56C>G variation to be pathogenic.@*CONCLUSION@#Homozygous c.56C>G variation of the PARK7 gene was the disease-causing variation in this family.

Genetic analysis of a pedigree affected with X-linked adrenoleukodystrophy / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a pedigree affected with X-linked adrenoleukodystrophy presenting as spastic paraplegia of the lower limbs.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patient and his mother. Potential variant was detected with a panel for genes associated with spastic paraplegia. Candidate variant was verified by PCR and Sanger sequencing.@*RESULTS@#Both the proband and his mother presented with walking difficulty. A previously known variant, c.623T to A (p.V208E), was identified in the ABCD1 gene mapped on chromosome X in both.@*CONCLUSION@#X-link adrenoleukodystrophy should be taken into account as a possible diagnosis for this pedigree.

Genetic study of a Parkinson's disease pedigree caused by compound heterozygous mutations in PARK2 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree where three siblings were affected with Parkinson's disease.@*METHODS@#Multiple ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS) were employed to detect the causative mutation. Sanger sequencing of cDNA was also used for verify the effect of mutation on the transcription of RNA.@*RESULTS@#Heterozygous deletion of exon 3 of the PARK2 gene was detected by MLPA, while a heterozygous splice site variant c.619-3G>C was detected by NGS. Both mutations were shown to result in aberrant transcripts of the PARK2 gene (loss of exons 3 and 6, respectively) by Sanger sequencing of cDNA. Both mutations have co-segregated with the disease in the pedigree.@*CONCLUSION@#Compound heterozygous mutations of the PARK2 gene probably underlie the disease in this pedigree. Identification of the splice site variant c.619-3G>C has expanded the mutation spectrum of the PARK2 gene.