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Fig. 4 | Hereditary Cancer in Clinical Practice

Fig. 4

From: Two independent families with de novo whole APC gene deletion and intellectual disability: a case report

Fig. 4

Candidate genes that might cause intellectual disability in the case of heterozygous deletions. 22 OMIM-registered genes (CAMK4, STARD4, STARD4-AS1, NREP, NREP-AS1, EPB41L4A, EPB41L4A-AS1, SNORA13, LOC101927023, EPB41L4A-DT, LINC02200, LOC102467216, APC, SRP19, REEP5, DCP2, MCC, TSSK1B, YTHDC2, KCNN2, LOC101927078, and LINC01957) were in the common deletion region (3.47 Mb) observed in our study for the two probands. Yamaguchi et al. reported a patient with FAP with heterodeletions in 13 gene loci (CAMK4, STARD4, STARD4-AS1, NREP, NREP-AS1, EPB41L4A, EPB41L4A-AS1, SNORA13, LOC101927023, EPB41L4A-DT, LINC02200, LOC102467216, APC) [21]. Among the remaining nine genes, the genes with a probability of loss-of-function intolerance (pLI) due to gnomAD of 0.9 or higher were YTHDC2 and KCNN2. KCNN2 is reportedly associated with ID [22], while YTHDC2 is not

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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287