Publications by authors named "Zaynab Bholah"
Article Synopsis
- Some people with Gorlin syndrome have mutations in a gene called SUFU, which can cause the same issues as those with PTCH1 mutations.
- The study looked at DNA from four families that had Gorlin syndrome but didn't have PTCH1 mutations and found different SUFU mutations in two of those families.
- The findings suggest that children with SUFU-related Gorlin syndrome may need more brain scans since they have a higher risk of developing a type of brain tumor, while those with PTCH1 mutations have a much lower risk.
Gorlin syndrome is an autosomal dominant disorder, characterized by multiple early-onset basal cell carcinomas (BCCs) and jaw keratocysts. Through association studies in cohorts of sporadic BCC, nine genetic variants have previously been identified to increase the risk of BCC. The nine SNPs were genotyped by Taqman allelic discrimination in 125 individuals with Gorlin syndrome.
View Article and Find Full Text PDFGorlin syndrome is an autosomal dominant disorder characterized by multiple early-onset basal cell carcinoma, odontogenic keratocysts and skeletal abnormalities. It is caused by heterozygous mutations in the tumour suppressor PTCH1. Routine clinical genetic testing, by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to confirm a clinical diagnosis of Gorlin syndrome, identifies a mutation in 60-90 % of cases.
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