Categoría: Frontiers in Genetics
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Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH–SCKS in a Chinese pregnant woman across two consecutive pregnancies
BackgroundPrimary autosomal recessive microcephaly and Seckel syndrome spectrum (MCPH–SCKS) disorders are a group of autosomal recessive conditions characterized by severe growth retardation and neurodevelopmental impairment. CEP152 variants are establ…
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Germline activating sequence variations in RASopathy spectrum genes: genotype–phenotype correlation in a North Indian cohort
BackgroundRASopathies represent a group of genetically heterogeneous developmental disorders caused by germline variants in genes regulating the RAS/MAPK signalling pathway. These syndromes share overlapping clinical features, complicating diagnosis. D…
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Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency
ObjectiveTo investigated the pathogenic mechanism of NFIX frameshift mutations in Malan syndrome.MethodsReviewed the clinical diagnosis and treatment processes of the Malan syndrome proband, analyzing the relationship between NFIX frameshift mutation g…
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Precision genomic profiling in Gaucher disease: insights from atypical presentations
BackgroundGaucher disease (GD) is characterized by significant phenotypic heterogeneity, even among patients with identical GBA1 genotypes, suggesting the role of genetic and/or epigenetic modifiers. The enzymatic defect and pathological accumulation o…
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Case Report: Whole-exome sequencing revealed a de novo variant in SETBP1 gene in a Chinese family with developmental delay
BackgroundThis study aims to characterize the potential genetic etiologies in children with developmental delay through whole-exome sequencing (WES) providing assistance for clinical diagnosis, genetic counseling, and reproductive guidance.MethodsWES w…
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Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders
Heterozygous missense variants in the KIF21A gene are best known to cause congenital fibrosis of the extraocular muscles. A recent report by Borja et al., 2025 suggested that the KIF21A gene may also be associated with syndromic phenotype, including pe…
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A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review
Chromosomal deletion syndromes are common worldwide. However, one rare condition that distinguishes a limited number of reported cases and variable phenotypes is 20p12.3 microdeletion syndrome. This case report describes a nine-year-old girl diagnosed …
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Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China
BackgroundD-bifunctional protein deficiency (D-BPD) is a rare fatal autosomal recessive peroxisomal disorder caused by biallelic pathogenic mutations in the hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4) gene; it is characterized by hypotonia, seizur…
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Case Report: Novel compound heterozygous mutations in PNPLA6 gene associated with Oliver-McFarlane syndrome
BackgroundOliver-McFarlane syndrome (OMCS) is an extremely rare congenital disorder that presents with hypogonadotropic hypogonadism, long eyelashes and eyebrows, pigmentary retinopathy, peripheral nerve axon neuropathy and other associated features. I…