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

Original Article | December 04, 2025
Pan-cancer Analysis of TP53 Expression: Prognostic Significance and Identification of Diagnostic and Prognostic Biomarkers in Hepatocellular Carcinoma
Amna Atia , Mohamed Alfaki
Year: 2025
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Background: Hepatocellular carcinoma (LIHC) is a common and aggressive liver malignancy, often diagnosed at advanced stages. Dysregulation of the TP53 tumor suppressor gene critical for cell cycle control, apoptosis, and genomic stabilityis frequently observed in LIHC; however, its prognostic value remains uncertain. Objectives: To investigate TP53 expression levels, prognostic relevance,... Continue Reading
Original Article | December 30, 2025
Impact of genetic counselling on awareness and mental health in sickle cell families
Sagar Bayaskar , Aishwarya Mahalle
Year: 2025
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Background: Sickle cell disease (SCD) is a hereditary blood disorder with high prevalence among tribal populations in India. This study uniquely evaluates the impact of genetic counselling on disease awareness and mental health in India’s tribal communities, where limited access to such services exacerbates disease burden. Methods: A qualitative, cross-sectional study... Continue Reading
Case Report | December 30, 2025
Noonan syndrome caused by a pathogenic SOS1 variant: expanding the phenotypic spectrum and molecular correlations
Laura María Zabala Sepúlveda , Lina Johanna Moreno Giraldo
Year: 2025
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Background: Noonan syndrome (NS) is an autosomal dominant condition characterized by facial dysmorphism, congenital heart disease, growth impairment, and ectodermal findings. Variants in SOS1 account for a large proportion of cases. Case presentation: We report a male infant with nasal bone hypoplasia and shortening of long bones identified during the... Continue Reading
Original Article | December 07, 2025
Novel Variant in CBP domain of GLI3 underlying Postaxial Polydactyly
Aneela Hazoor , Bibi Ayesha Zehri , Nadeem Hameed , Muhammad Sharif Hasni , Mehraj Gul
Year: 2025
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Background: Polydactyly is common congenital limb anomaly characterized by having extra fingers or toes and can be either syndromic or non-syndromic. GLI3 plays an important role in limb development via the Sonic Hedgehog signaling system. Methods and Results: In this study, we examined a Pakistan family with postaxial polydactyly in an... Continue Reading
Short Communication | November 02, 2025
 IVF Empowered by NGS: Redefining Reproductive Medicine Through PGT-A and PGT-M
Qamre Alam , Mohamed Ali Ateyah , Mohamed Hani Ali , Kadhem Alkhenaizi
Year: 2025
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Genetic disorders remain among the greatest challenges in modern medicine, with over 95% lacking curative therapies. Preimplantation Genetic Testing (PGT) has emerged as a transformative preventive tool, enabling the detection of chromosomal abnormalities (PGT-A) and single-gene disorders (PGT-M) in embryos prior to implantation. At ExpressMed Diagnostics and Research, Bahrain, nearly... 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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