Categoría: Frontiers in Genetics
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Expanding the mutational spectrum of congenital microcephaly in Pakistani families
Autosomal recessive primary microcephaly (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a markedly reduced head circumference (−3 to −5 standard deviations) at birth, with relatively preserved brain architecture. Aff…
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Case Report: genotype–phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction
BackgroundFilamin A (FLNA) mutations are associated with the development of numerous diseases and disorders. Although recent studies have shed light on genotype–phenotype relationships, the evidence remains fragmented.Case presentationHerein, we report…
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Retinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report
BackgroundRetinitis pigmentosa and sensorineural deafness are two distinct clinical entities that can be caused by a variety of genetic mutations. The DHX16 gene, which encodes a protein involved in RNA processing, has been implicated in several geneti…
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rs9789446 genotype as susceptibility biomarkers for congenital hypothyroidism based on population and family validation
IntroductionCongenital hypothyroidism (CH) is a metabolic disorder in newborns due to insufficient synthesis, abnormal secretion, or defective action of thyroid hormones. While newborn screening enables early detection, the precise etiology remains elu…
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Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare monogenic kidney disorder characterized by progressive tubular atrophy and interstitial fibrosis. It is primarily associated with pathogenic variants in genes such as UMOD (uromodul…
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Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin
IntroductionProgressive myoclonic epilepsies (PME) are rare genetic disorders typically presenting with myoclonus, seizures, and cognitive decline. While several genes are associated with PME, the NUS1 gene has recently emerged as a potential cause. We…
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LRRC56 deficiency cause motile ciliopathies in humans and mice
IntroductionMotile ciliopathies represent a group of disorders caused by impaired motility of cilia and flagella, resulting in clinical manifestations such as laterality defects, asthenospermia, chronic respiratory infections, and hydrocephalus. Althou…
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Neonatal-onset familial hemophagocytic lymphohistiocytosis: a case report with genetic confirmation of PRF1 mutations
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, inherited immune-dysregulation syndrome that can present in the neonatal period and progress rapidly without timely recognition. We report a full-term female who developed abdominal distensio…