Exome sequencing identifies a novel pathogenic CLCN1 mutation in an Iranian family with Myotonia Congenita: A case report

Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects

“…Computational evidence derived from BayesDel_addAF, EIGEN, MutationTaster and single nucleotide variants within splicing consensus regions -Splicing supported a disease-causing and deleterious effect of NM_020812.4:c.1258 + 2T>G variant (Table 1). Further bioinformatics analysis showed that this mutation is located in a conserved sequence in exon 11 of the DOCK6 gene and is a pathogenic splicing variant likely to disturb normal splicing (mutation taster (http://www.mutationtaster.org/) (Nasirshalal et al , 2021; Salmani et al , 2022).…”

“…Further bioinformatics analysis showed that this mutation is located in a conserved sequence in exon 11 of the DOCK6 gene and is a pathogenic splicing variant likely to disturb normal splicing (mutation taster (http://www. mutationtaster.org/) (Nasirshalal et al, 2021;Salmani et al, 2022).…”