Categoría: Frontiers in Genetics
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Identification of common diagnostic biomarkers and immune landscapes in sepsis and acute kidney injury: a transcriptomic study integrating machine learning and single-cell analysis
BackgroundSepsis and acute kidney injury (AKI) are life-threatening conditions often coexisting as sepsis-associated AKI (S-AKI). However, their shared molecular mechanisms and immune heterogeneity remain unclear. This study aims to identify robust dia…
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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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X-linked recessive ichthyosis with X-linked retinoschisis in two brothers: a case report
BackgroundX-linked ichthyosis (XLI) and X-linked retinoschisis (XLRS) are both inherited in an X-linked recessive manner. To date, no prior reports document both conditions’ simultaneous occurrence. This case presents two brothers who were diagnosed wi…
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Biallelic variants in IBA57 with multiple mitochondrial dysfunction syndrome 3
BackgroundMultiple mitochondrial dysfunction syndrome type 3 (MMDS3; OMIM #615330) is a rare autosomal recessive disorder caused by mutations in IBA57. Its complex clinical presentation and molecular pathogenesis remain incompletely understood.MethodsT…
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Novel variants of TP63 identified in Chinese families with split-hand/foot malformation
ObjectiveSplit-hand/foot malformation (SHFM) is a group of congenital birth defects affecting the hands and feet, significantly impairing patients quality of life. The TP63 gene encodes the p63 protein, heterozygous TP63 variants can cause SHFM. The ai…
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Genotype-based severity scoring system in Wolfram Syndrome: correlation with onset of cardinal symptoms and WFS1 gene variant types
BackgroundWolfram syndrome is a rare genetic disorder characterized by antibody‐negative early‐onset atypical diabetes mellitus, optic nerve atrophy, sensorineural hearing loss, central diabetes insipidus (arginine vasopressin deficiency), and progress…
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Prenatal genotype-phenotype correlations in four fetuses with Rubinstein-Taybi syndrome due to EP300 mutations: a case series and literature review
ObjectiveThis study aims to delineate the prenatal ultrasound characteristics of four cases of Rubinstein-Taybi syndrome type 2 (RSTS2) and explore potential associations with this condition as detected through prenatal ultrasound.MethodsWhole exome se…
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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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Assessment of paralogue annotation for improving diagnostic accuracy in CALM1, CALM2, and CALM3 genes
The calcium (Ca2+) sensor calmodulin (CaM) genes CALM1, CALM2, and CALM3 were recently included in the American College Medical Genetics and Genomics (ACMG) secondary findings (SF) list, given their significance in causing long QT syndrome (LQTS) and c…
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Case Report: First report of spinal stenosis in Imagawa-Matsumoto syndrome: a novel SUZ12 variant in an 11-year-old Chinese child
ObjectiveTo expand the phenotypic and genotypic spectrum of Imagawa-Matsumoto syndrome (IMMAS) by investigating the genetic etiology and unique clinical manifestations of an overgrowth case associated with a SUZ12 gene variant.MethodsWe report a case o…