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

Review Article | October 10, 2026
The geneticists clinicians consortium of India: an initiative to bridge the gap between genetics and clinical medicine
Kausar Neyaz , The GCCI , Sunil Kumar Polipalli , Prashanth Suravajhala
Year: 2026
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The Geneticists Clinicians Consortium of India (GCCI) is a consortium whose aims are to establish a know-how of clinical and genomic data thereby bridging the gap between the clinicians and geneticists. The broad principle of the Geneticists-Clinicians Consortium of India (GCCI) is to bridge the gap between the geneticists and... Continue Reading
Original Article | October 10, 2026
Functional characterization of the FOXP4 variants support the loss of function as a Mechanism of FOXP4-associated disease 
Naif Ahmad Mahmood Almontashiri
Year: 2026
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Background: We recently reported 10 heterozygous missense and loss-of-function (LoF) FOXP4 variants that cause neurodevelopmental disease and multiple congenital abnormalities in 13 patients. However, the functional impact of the reported variants is not yet characterized. Methods: The variants were constructed and introduced into expression vectors and then transfected into cell... Continue Reading
Case Report | October 10, 2026
A novel de novo splice-site variant in RPS26 identified by exome sequencing in a patient with suspected Diamond-Blackfan Anemia
Deepak Panwar , Atul Thatai
Year: 2026
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Background: Diamond–Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome characterized by pure red cell aplasia and is commonly caused by variants in ribosomal protein genes. Variants in RPS26 are relatively uncommon, and splice-site changes in this gene are still underreported. Case Presentation: We describe a 17-month-old female... Continue Reading
Review Article | October 10, 2026
Gotra exogamy and consanguinity: a genetic and public health view
Komal Uppal , Akansha Bisht , Sunil Kumar Polipalli
Year: 2026
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Consanguineous marriages, defined as unions between biologically related individuals, are associated with an increased risk of autosomal recessive genetic disorders because relatives are more likely to share deleterious alleles inherited from a common ancestor. In contrast, Gotra exogamy in Hindu societies is a socio-cultural practice that discourages marriage within the... Continue Reading
Case Report | October 10, 2026
Delayed diagnosis of early-onset N-acetylglutamate synthase deficiency in two related Saudi children
Mai Labani , Talal ALAnzi , Anwar Almughyiri , Moeenaldeen AlSayed
Year: 2026
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Background: N-acetylglutamate synthase deficiency (NAGSD) is the rarest urea cycle disorder and a potentially treatable cause of neonatal hyperammonemia. Because it may not be detected by routine newborn screening, delayed diagnosis can result in irreversible neurological injury. Objective: To describe the clinical, biochemical, and molecular findings of two related patients... 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 - Image 1

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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