JBCGenetics Cover Image ISSN: 1658-807X
EISSN: 1658-8088

Journal of Biochemical and Clinical Genetics

The Journal of Biochemical and Clinical Genetics (JBCGenetics) is a peer-reviewed, open-access medical journal. It is the official journal of the Saudi Society of Medical Genetics. 

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Journal of Biochemical and Clinical Genetics is the official journal Saudi Society of Medical Genetics

Articles

Editorial | June 25, 2025
Premarital genetic screening for healthy couples: advantages and challenging
Majid Alfadhel
Year: 2025
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Premarital genetic screening (PGS) refers to the procedure whereby couples are tested for genetic abnormalities before marriage in order to determine the likelihood that their future children may inherit certain genetic conditions. This screening can lower the prevalence of genetic illnesses and assist potential parents in making educated reproductive decisions. Continue Reading
Original Article | June 28, 2025
A novel biallelic frameshift variant in MYO15A causing nonsyndromic hearing loss in Saudi family
Faisal Almalki , Hamzah Wali , Reham M. Balahmar , Abdularaheem Alshareef , Mansour Rabeh Alshamani , Roa Talal Halawani
Year: 2025
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Background: Sensorineural hearing loss is among the most common sensory defects worldwide. Nonsyndromic hearing loss (NSHL) accounts for 70% of inherited hearing loss. The genetic causes of NSHL are considered heterogeneous. The high rate of consanguineous marriages in Saudi Arabia increases the population's prevalence of autosomal recessive inheritance patterns. Objective:... Continue Reading
Original Article | June 30, 2025
Non-syndromic intellectual disability and cataract in a patient with dual molecular diagnosis of SRD5A3 and PITX3-related diseases
Naif A.M. Almontashiri , Samar A. Al-Swailem , Reham M. Balahmar , Essa Alharby , Manar M. Almuntashri , Ali Alasmari
Year: 2025
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Objectives: Our objective was to identify the genetic cause in a patient with intellectual disability and bilateral cataracts. Methods: The genetic, neurological, and ophthalmological evaluations were performed. DNA samples were provided from the patient, parents, and unaffected sibs to perform whole exome sequencing (WES) and Sanger confirmation. Biochemical testing on... Continue Reading
Original Article | June 25, 2025
Genetic characterization and clinical correlation in a cohort of Turkish patients with immunodeficiency: insights from whole exome sequencing
Aslı Güner Öztürk Demir , Akif Ayaz , Serdar Nepesov , Alper Gezdirici , Muhsin Elmas
Year: 2025
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Background: This retrospective study aims to present the clinical and genetic data of patients diagnosed with immunodeficiency through genetic diagnostic methods. It is essential to investigate the impact of genetic risk factors, such as consanguinity, on immunodeficiency, identify the underlying genetic variants, and assess potential risks. Identifying genetic defects in... Continue Reading
Original Article | June 24, 2025
CFTR interactome may impact gastric cancer: an in silico system-level coexpression analysis
Camila Sinimbú Forte , Amanda Ferreira Vidal , Pablo Diego do Carmo Pinto , Gilderlanio Santana de Araújo
Year: 2025
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Background: The cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction is linked to gastrointestinal inflammation and has been implicated in early-onset malignancies. However, its role in gastric cancer remains poorly understood. Aims: To investigate the CFTR interactome and assess its potential functional involvement across different subtypes of gastric cancer. Methods: We... Continue Reading

Message from Editor in Chief

A warm welcome to the Journal of Biochemical and Clinical Genetics! We're thrilled to share cutting-edge research, innovative discoveries, and expert insights in Genetics field with you. Our journal is dedicated to advancing the fields of biochemical and clinical genetics, fostering collaboration, and promoting scientific excellence. We invite you to explore our latest articles, reviews, and research papers, and novel case reports . Let's unravel the complexities of genetics and genomics together, driving progress and improving human health. Thank you for being part of our scientific community!"

News

Breaking Discovery: NAV3 Gene Linked to a Novel Neurodevelopmental Disorder (NEDUA) – OMIM #621182
Breaking Discovery: NAV3 Gene Linked to a Novel Neurodevelopmental Disorder (NEDUA) – OMIM #621182

We are pleased to share a significant milestone in the field of neurogenetics. The Editor in Chief of the Journal of Biochemical and Clinical Genetics, Prof. Majid Alfadhel, along with his team, has recently identified a novel gene-disease association involving NAV3, which has now been officially recognized by OMIM as “Umair-Alfadhel Neurodevelopmental Disorder (NEDUA)” [OMIM #621182] — named in honor of Dr. Muhammad Umair (Editorial Board Member) and Prof. Majid Alfadhel (Editor in Chief) for their pioneering contribution.
Key Findings:
  • Gene: NAV3 (Neuron Navigator 3), crucial for neuronal morphogenesis and axonal guidance.
  • Clinical Features: Patients present with global developmental delay, poor or absent speech, dysmorphic facies, microcephaly, hypotonia, and additional neurodevelopmental features.
  • Inheritance: Autosomal recessive, with both homozygous and compound heterozygous variants identified in affected families.
  • Impact: This discovery provides much-needed answers for families worldwide and opens new avenues for research into targeted therapies and genetic counseling.
Read More:
• OMIM #621182
• Umair et al., 2024 [PubMed: 39038237]
 
This achievement notably marks the second time where a disease has been named after Prof. Alfadhel, following the recognition of Alfadhel Syndrome, which is registered in the Online Mendelian Inheritance in Man (OMIM) database with the identifier #620655. Prof. Alfadhel is the second scientist from Saudi Arabia to have two diseases named after him in the OMIM database.
Let’s continue to advance our understanding of neurodevelopmental disorders together!
 

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