E-ISSN: 1658-8088
Prof. Majid Alfadhel, MD, MHSc, SSC-Ped, ABHS(CH), FCCMG
Professor, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.
Chairman of Genetics and Precision Medicine department(GPM), King Abdullah Specialized Children Hospital (KASCH), King Abdulaziz Medical City, Riyadh, Saudi Arabia
Deputy Executive Director of King Abdullah International Medical Research Centre (KAIMRC), Riyadh Saudi Arabia
Prof. Majid Alfadhel has more than 150 publications in high impact factors journals (including New England Journal of Medicine). He is author of 3 books
From submission to first editorial decision.
From editorial acceptance to publication.
The above percentage of manuscripts have been accepted in the last 12 months.
Mission Statement
The Journal of Biochemical and Clinical Genetics is a medical publication dedicated to the study of clinical and biochemical aspects of human genetic disorders including: inborn errors of metabolism dysmorphology, neurogenetics, cytogenetics, genetics syndromes, newborn screening, carriers detection, epidemiology of genetic disorders, pharmacogenetics, cancer genetics, behavioral genetics, community genetics, screening of monogenic and polygenic disorders, fetal pathology, prenatal and pre-implantation genetic diagnosis and genetic counseling as well as advances in prevention and treatment of genetic disorders. The journal highlights fundamental investigations of the pathogenesis of inherited disorders and practical advances in the molecular diagnosis of human disease. Clinical application of genomics and next generation sequencing technologies are considered valuable contributions.
Aims and Scope
The Journal of Biochemical and Clinical Genetics (JBCGenetics) aims to provide continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as phenotype analysis within the current context of genotype/phenotype correlations.
As a crucial resource to physicians, medical geneticists and associated professionals, the Journal's primary purpose is to report original research in the following areas:
The journal also reports on animal models of human genetic disorders, ethical, legal and social issues, fetal genetic pathology and teratology, genetic drift, historical aspects of medical genetics, and studies of twins and twinning. The Journal focuses on the themes surrounding careful phenotype analysis by emphasizing meticulous documentation of phenotype and natural history of conditions. In addition to research articles, regular features of the journal include clinical reports, editorials, rapid publications, and letters to the editor.
Background: The endoplasmic reticulum membrane protein complex 1 (EMC1) gene encodes a subunit of the EMC with multiple alternatively spliced transcripts encoding different isoforms. Monoallelic and biallelic mutations of the EMC1 gene have been reported for cerebellar atrophy, visual impairment, psychomotor retardation, lipoid proteinosis of Urbach and Wiethe, and Alkuraya-Kucinskas syndrome. Methods and cases: Herein, we present whole exome sequencing results of eight Saudi pediatric patients with distinctive clinical features which revealed both monoallelic and biallelic variants in the EMC1 gene (CHR1 exon4: 19568918, NM_001271429.2, c.364G>A; p.A122T), including two previously reported siblings (CHR1 xon21: 19547328, NM_015047.3, c.2602G>A; p.G868R). Results: The patients presented with the neurological and extra-neurological clinical spectrum that included seizures, spastic diplegia, cognitive impairment, axial and appendicular hypotonia, dysmorphic features, joint hyper-flexibility, attention deficit hyperactivity disorder, skeletal dysplasia in addition to generalized global developmental delay, failure to thrive, speech delay, intellectual disability, and visual impairments. Furthermore, brain Magnetic resonance imaging findings were consistent with variable clinical features and revealed brain atrophy, thinning of corpus callosum, semi-lobar holoprosencephaly, white matter abnormality, diffuse paucity of the myelin within the brain parenchyma, and reduction of white matter arborization in the temporal lobes. Conclusion: In conclusion, these clinical cases highlight the importance of the EMC1 gene in disease phenotype and add up to the expanded EMC1-related phenotype.
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