Categoría: Case Report
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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…