2019
DOI: 10.1002/mgg3.987
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Unexpected phenotype in a frameshift mutation of PTCH1

Abstract: Background Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, skeletal anomalies, macrocephaly, and dysmorphisms. BCNS is mainly caused by mutations in PTCH1, an onco‐suppressor gene that maps at 9q22.3 region. A disease related to BCNS is the 9q22.3 microdeletion syndrome. This condition has an overlapping clinical phenotype with the BCNS, but i… Show more

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Cited by 3 publications
(3 citation statements)
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“…Reduced levels of PTCH1 as in our patient and the truncation of the protein before this point as in the patient discussed above (Beltrami et al, 2020) may explain the extensive phenotype, although other BCNS patients with truncating mutations which would remove this domain but with mild/late onset disease have also been reported (Reinders et al, 2018). Other authors (Wicking et al, 1997) have attributed all the congenital features of BCNS to haploinsufficiency, since the majority of mutations, including some that occur 5 0 to the mutation in the patient of Beltrami and colleagues (Beltrami et al, 2020) would result in premature termination (see also (Reinders et al, 2018) and http://www.lovd.nl/). Therefore, it seems unlikely that the severity is due simply to the nature of the PTCH1 deletion.…”
Section: Discussionsupporting
confidence: 66%
See 1 more Smart Citation
“…Reduced levels of PTCH1 as in our patient and the truncation of the protein before this point as in the patient discussed above (Beltrami et al, 2020) may explain the extensive phenotype, although other BCNS patients with truncating mutations which would remove this domain but with mild/late onset disease have also been reported (Reinders et al, 2018). Other authors (Wicking et al, 1997) have attributed all the congenital features of BCNS to haploinsufficiency, since the majority of mutations, including some that occur 5 0 to the mutation in the patient of Beltrami and colleagues (Beltrami et al, 2020) would result in premature termination (see also (Reinders et al, 2018) and http://www.lovd.nl/). Therefore, it seems unlikely that the severity is due simply to the nature of the PTCH1 deletion.…”
Section: Discussionsupporting
confidence: 66%
“…A recent case report presents a patient who was found to be heterozygous for a frame shift mutation (single base insertion) at the beginning of exon 11 of PTCH1 (p.Val502Gly_fs*13) (Beltrami et al, 2020). Although the mutation affected only PTCH1 , the patient had some manifestations of 9q22.3 deletion syndrome.…”
Section: Discussionmentioning
confidence: 99%
“…This disease has the estimated prevalence of 1/57000 to 1/256000 and both sexes are equally affected [ 8 ]. The patched-1 (PTCH1) gene, an onco-suppressor gene that maps at 9q22.3 region, is the major causative gene of NBCCS, which involves in the hedgehog signaling pathway [ 9 , 10 ]. The mutation is transmitted in an autosomal dominant inheritance from parents to their children.…”
Section: Discussionmentioning
confidence: 99%