Yıl: 2020 Cilt: 28 Sayı: 4 Sayfa Aralığı: 283 - 287 Metin Dili: İngilizce DOI: 10.5336/caserep.2020-75076 İndeks Tarihi: 27-06-2021

Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family

Öz:
Paroxysmal kinesigenic choreoathetosis (PKC) is an inherited disorder with an autosomal dominant mode of inheritance, causedmostly by the mutations in PRRT2 (proline-rich transmembrane protein-2) gene, located on chromosome 16. Pseudoxanthoma elasticum(PXE) is a hereditary metabolic disease with autosomal recessive inheritance resulting from the mutations in the ABCC6 (ATP-Binding Cassette, Subfamily C, Member 6) gene, located also on chromosome 16. Here we present a female patient with familial paroxysmal kinesigenicdyskinesia and benign familial infantile convulsions (BFIC), in whom both a heterozygous truncating frameshift mutation in the PRRT2 geneand a heterozygous missense mutation in the ABCC6 gene were demonstrated. The co-existence of these two mutations has not been reportedin the literature. Although the clinical symptomatology of PXE was not present in our patient, some family members of our index case had.Here we present a Turkish family with two different mutations on the same chromosome, namely PRRT2 and ABCC6 mutations. However,because these two mutations have separate parental inheritance and are not in linkage disequilibrium, the co-existence was reported as co-incidental.
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APA Benbir Senel G, Tezen D, Tekgul S, Başak A, APAYDIN H (2020). Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family. , 283 - 287. 10.5336/caserep.2020-75076
Chicago Benbir Senel Gulcin,Tezen Didem,Tekgul Seyma,Başak Ayşe Nazlı,APAYDIN HULYA Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family. (2020): 283 - 287. 10.5336/caserep.2020-75076
MLA Benbir Senel Gulcin,Tezen Didem,Tekgul Seyma,Başak Ayşe Nazlı,APAYDIN HULYA Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family. , 2020, ss.283 - 287. 10.5336/caserep.2020-75076
AMA Benbir Senel G,Tezen D,Tekgul S,Başak A,APAYDIN H Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family. . 2020; 283 - 287. 10.5336/caserep.2020-75076
Vancouver Benbir Senel G,Tezen D,Tekgul S,Başak A,APAYDIN H Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family. . 2020; 283 - 287. 10.5336/caserep.2020-75076
IEEE Benbir Senel G,Tezen D,Tekgul S,Başak A,APAYDIN H "Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family." , ss.283 - 287, 2020. 10.5336/caserep.2020-75076
ISNAD Benbir Senel, Gulcin vd. "Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family". (2020), 283-287. https://doi.org/10.5336/caserep.2020-75076
APA Benbir Senel G, Tezen D, Tekgul S, Başak A, APAYDIN H (2020). Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family. Türkiye Klinikleri Journal of Case Reports, 28(4), 283 - 287. 10.5336/caserep.2020-75076
Chicago Benbir Senel Gulcin,Tezen Didem,Tekgul Seyma,Başak Ayşe Nazlı,APAYDIN HULYA Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family. Türkiye Klinikleri Journal of Case Reports 28, no.4 (2020): 283 - 287. 10.5336/caserep.2020-75076
MLA Benbir Senel Gulcin,Tezen Didem,Tekgul Seyma,Başak Ayşe Nazlı,APAYDIN HULYA Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family. Türkiye Klinikleri Journal of Case Reports, vol.28, no.4, 2020, ss.283 - 287. 10.5336/caserep.2020-75076
AMA Benbir Senel G,Tezen D,Tekgul S,Başak A,APAYDIN H Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family. Türkiye Klinikleri Journal of Case Reports. 2020; 28(4): 283 - 287. 10.5336/caserep.2020-75076
Vancouver Benbir Senel G,Tezen D,Tekgul S,Başak A,APAYDIN H Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family. Türkiye Klinikleri Journal of Case Reports. 2020; 28(4): 283 - 287. 10.5336/caserep.2020-75076
IEEE Benbir Senel G,Tezen D,Tekgul S,Başak A,APAYDIN H "Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family." Türkiye Klinikleri Journal of Case Reports, 28, ss.283 - 287, 2020. 10.5336/caserep.2020-75076
ISNAD Benbir Senel, Gulcin vd. "Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family". Türkiye Klinikleri Journal of Case Reports 28/4 (2020), 283-287. https://doi.org/10.5336/caserep.2020-75076