Categoría: JMG First
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Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability
BackgroundDuring genetic screening for radioulnar synostosis (RUS), we identified FBN2 variants in individuals who also exhibited pectus excavatum (PE). This study aimed to investigate the association between FBN2 variants and non-syndromic paediatric …
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Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy
BackgroundBartter syndrome (BS) is a salt-losing renal tubulopathy classically characterised by hypokalaemic metabolic alkalosis and hyperreninaemic hyperaldosteronism.MethodsWe investigated the genetic cause of a Bartter-like phenotype in an adolescen…
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Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy
BackgroundBartter syndrome (BS) is a salt-losing renal tubulopathy classically characterised by hypokalaemic metabolic alkalosis and hyperreninaemic hyperaldosteronism.MethodsWe investigated the genetic cause of a Bartter-like phenotype in an adolescen…
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Functional characterisation and pathological significance of variants of MEF2C promoter in tetralogy of Fallot
BackgroundTetralogy of Fallot (TOF) is the most common cyanotic form of congenital heart disease (CHD). The myocyte enhancer factor 2C (MEF2C) transcription factor is a crucial regulator of cardiac development, and variants in the coding region of this…
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Functional characterisation and pathological significance of variants of MEF2C promoter in tetralogy of Fallot
BackgroundTetralogy of Fallot (TOF) is the most common cyanotic form of congenital heart disease (CHD). The myocyte enhancer factor 2C (MEF2C) transcription factor is a crucial regulator of cardiac development, and variants in the coding region of this…
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Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability
BackgroundNeurodevelopmental disorders are one of the most prevalent reasons for genetic testing in childhood. Despite the identification of over 1950 associated genes, many proposed candidate genes lack convincing gene-disease validity. The gene PREP …
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Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry
BackgroundInherited retinal diseases (IRDs) typically follow a single inheritance pattern, but some genes cause disease through both autosomal recessive (AR) and autosomal dominant (AD) patterns, challenging genetic counselling. This study aims to iden…
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Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry
BackgroundInherited retinal diseases (IRDs) typically follow a single inheritance pattern, but some genes cause disease through both autosomal recessive (AR) and autosomal dominant (AD) patterns, challenging genetic counselling. This study aims to iden…
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Interpreting TP53 variants: somatic mosaicism and ERCC6L2-driven clonal evolution
We present two illustrative cases highlighting diagnostic, surveillance and management complexities of TP53 pathogenic variants (PVs). Case 1 describes a 24-year-old female with early-onset breast cancer and a somatic mosaic TP53 PV with a variant alle…
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Interpreting TP53 variants: somatic mosaicism and ERCC6L2-driven clonal evolution
We present two illustrative cases highlighting diagnostic, surveillance and management complexities of TP53 pathogenic variants (PVs). Case 1 describes a 24-year-old female with early-onset breast cancer and a somatic mosaic TP53 PV with a variant alle…