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A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

Background In addition to its role in cell adhesion and gene expression in the canonical Wingless/integrated Wnt signaling pathway, β-catenin also regulates genes that underlie the transmission of nerve impulses. Mutations of CTNNB1 (β-catenin) have recently been described in patients with a wide range of neurodevelopmental disorders (intellectual disability, microcephaly and...

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Background Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverage of the CDS and 10 bp flanking regions of genes was 99 %. All families were referred to the Neurosciences Clinic of King Faisal Specialist Hospital and Research...

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

Background Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism. Method Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in...

Characterizing the morbid genome of ciliopathies

Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome, pleiotropy, and variable expressivity remains incomplete. Results We applied genomic approaches on a large patient cohort of 371 affected...

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016–December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index...

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

Hetterschijt 1 4 Sylvia van Beersum 4 Jeroen van Reeuwijk 4 Karsten Boldt Hannie Kremer 1 4 Robert A. Kesterson Dorota Monies 3 Mohamed Abouelhoda 3 Ronald Roepman 4 Martijn H. Huynen 6 Marius Ueffing Rob B

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature

Alkayal 0 Dorota Monies 0 Brian F Meyer 0 0 Address: Genetics Department, Research Center, King Faisal Specialist Hospital and Research Center , Riyadh , Saudi Arabia Backgrounds: Whole genome