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Pipeline publication

[…] not performed in heterozygous mutation carriers if there was no indication for any hearing defect., Molecular genetic investigation was done at Princess Al jawhara Center of Excellence in Research of Hereditary Disorders (PACER‐HD), King Abdulaziz University, Jeddah, Saudi Arabia. Blood samples were collected and the DNA was isolated from peripheral blood leukocytes using DNA blood mini kit (QIAmp, Qiagen, Inc., Hilden, Germany) following the manufacturer's instructions. All 16 exons of the KCNQ1 genes (RefSeq: NM_000218, UniProt P51787, OMIM 607542, LRG_287) were amplified from genomic DNA by primers that cover all exons and exon intron boundaries, the primers were designed using web‐based primer design software, Primer3Plus, PCR products were purified using QIAquick PCR purification kit then bidirectionally sequenced using a Big Dye Terminator v3.1Cycle Sequencing Kit on an ABI 3500 sequencer (Thermo Fisher Scientific Inc, Applied Biosytems, Foster City, CA, USA). Sequence variants were analyzed via BioEdit sequence alignment editor version 6.0.7 (, The proband (II: 4 in Fig. ) was a 3‐year‐old boy who was suspected to have epilepsy after he experienced an episode of syncope while swimming. After his neurological evaluation was found to be normal, he was diagnosed as LQTS with QTc = 557 ms (Table ). His syncopal attacks never recurred after he was started on Atelonol 12.5 mg/day. He had a brother and sister (II:2 and 3 in Fig. ) who died suddenly (at the age of 10 years while diving and 5 years while at the playground, respectively). The sister had a history of loss of consciousness and was diagnosed with LQTS but not treated. All the child […]

Pipeline specifications

Software tools Primer Premier, Primer3, BioEdit
Databases OMIM