Categoría: REVIEW
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Decoding the Genetic and Phenotypic Spectrum of MT‐TI Mitochondrial Diseases
Annals of Human Genetics, EarlyView.
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Integrating rare and common variation in epilepsy genetics: from genetic architecture to penetrance and clinical expressivity
Epilepsy genetics has often been interpreted through a useful but simplified dichotomous framework in which severe epilepsies, particularly developmental and epileptic encephalopathies, are attributed mainly to rare, high-effect variants, whereas more …
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Langer mesomelic dysplasia as a rare manifestation of SHOX deficiency: a narrative review
Langer mesomelic dysplasia is an exceptionally rare skeletal dysplasia caused by complete or functionally complete deficiency of the SHOX (short stature homeobox) gene located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. Clinicall…
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Understanding normal cardiac morphogenesis and its disruptions: a journey through pathways
Congenital heart diseases (CHDs) encompass a broad spectrum of structural anomalies with substantial clinical and genetic heterogeneity. They are the most common birth defects in humans, and a leading cause of paediatric morbidity and mortality. Yet, i…
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NIMA-related kinase family at the nexus of skeletal development and congenital arthrogryposis: coordinated regulation of cell cycle and ciliary dynamics
BackgroundThe NIMA-related kinase (NEK) family comprises a group of serine/threonine kinases that play pivotal roles in cell cycle control. Emerging evidence has demonstrated that loss-of-function (LOF) mutations in NEK family members, particularly NEK…
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Beyond CCR5 and HLA: rare genetic variants in HIV acquisition and disease progression
The CCR5 locus and the HLA class I region, first identified through candidate gene studies, remain the most well-characterized host genetic factors associated with HIV acquisition and disease progression, respectively. To date, genome wide association …
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Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection
Thalassemia and sickle cell disease are inherited hemoglobinopathies caused by pathogenic variants in the globin genes and represent a major global health burden. Despite major advances in screening and diagnostics, challenges persist due to extensive …
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A Novel Variant of STAG1 Gene and Literature Review
Annals of Human Genetics, Volume 90, Issue 3, Page 113-120, May 2026.
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ORMDL3: from an asthma susceptibility gene to multi-disease associations
The ORMDL3 protein, encoded by the ORMDL3 gene, functions as a transmembrane protein in the endoplasmic reticulum. Initially identified through its genetic link to asthma susceptibility, ORMDL3 plays a key role in regulating sphingolipid metabolism by …
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Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant
BackgroundVanishing white matter disease (VWMD; OMIM 603896), also known as childhood ataxia with central nervous system hypomyelination (CACH), is a rare autosomal recessive leukodystrophy caused by pathogenic variants in the EIF2B gene family (EIF2B1…