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 clinicians of India and promote high standards in genetic counseling with the help of our qualified health care team and certified genetic counselors. In keeping with this, the principal objectives of the GCCI is to support the dissemination of information from scientific research and create awareness to enhance the profession of genetic counseling in India. Continue Reading

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 same paternal lineage, whereas endogamy refers to marriage within a defined social or population group. Although Gotra exogamy may have historically limited certain forms of relatedness, its genetic implications remain indirect and culturally interpreted rather than scientifically established. Population genetic studies in India indicate that consanguinity and long-standing endogamy contribute to an increased prevalence of inherited disorders, estimated at 25–60 per 1000 births in some communities, depending on regional, socioeconomic, and cultural factors. These risks are primarily attributable to autosomal recessive inheritance resulting from increased carrier overlap among related individuals. This narrative review examines the relationships among Gotra exogamy, consanguinity,... Continue Reading

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 with NAGSD and to highlight the importance of early recognition and treatment. Methods: We report two related patients with clinically and molecularly confirmed NAGSD. Clinical presentation, biochemical results, neuroimaging, genetic findings, and treatment outcomes were reviewed. Results: Both patients presented in the neonatal period with hyperammonemia and later developed recurrent metabolic decompensation and seizures. Biochemical evaluation showed elevated glutamine with normal citrulline and normal acylcarnitine profiles, making early biochemical recognition challenging. Whole exome sequencing identified a homozygous pathogenic splice-site variant in the NAGS gene, c.427-2A>T, in both patients. Despite treatment with carglumic acid and dietary management, both developed significant neurodevelopmental... Continue Reading

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 who presented with severe anemia with clinical features suggestive of Diamond–Blackfan anemia. Whole Exome sequencing (WES) identified a novel heterozygous de novo canonical splice-site variant, NM_001029.5:c.182-1G>A in the RPS26 gene. The variant was absent from population databases, including gnomAD, and was also confirmed by Sanger sequencing. In silico analysis using SpliceAI predicted disruption of the canonical splice acceptor site along with activation of a cryptic splice site, suggesting a deleterious effect on normal splicing. However, RNA studies are needed to confirm the exact splicing outcome and to better understand how this variant affects RPS26 function. Based on ACMG/AMP guidelines, the... Continue Reading