TL;DR
Atypical presentations in patients with Fabry disease exhibit a broad clinical spectrum and diverse genotypes and should be closely monitored to enable early diagnosis and treatment, thereby improving prognosis.
The patient had developed unsteady gait 6 months before without clear cause, manifesting as a feeling of heaviness in the head and lightness in the feet, a sensation of walking on cotton wool when standing or walking, and the detection of the novel variant has enriched the mutational spectrum of the JAM2 gene.
Findings have enriched the mutational spectrum of the FBN1 gene among Chinese MFS patients and provided a basis for the genetic counseling and clinical management.
The c.394C>G compound heterozygous variants of the MED25 gene probably underlay the pathogenesis of BVSYS in this child, and was predicted to be deleterious by in silico analysis.
Objective 5α-Reductase type 2 deficiency (5α-RD2) is an autosomal recessive differences/disorders of sex development caused by SRD5A2 gene mutations, characterized by impaired testosterone-to-dihydrotestosterone conversion and highly heterogeneous clinical phenotypes. The genotype-phenotype correlation of 5α-RD2 remain...
The cohort highlights novel findings, including the co-occurrence of AD LZTR1-NS with 22q11.2 deletion and two patients with AR NS with features suggestive of schwannomatosis, which expand the clinical spectrum of LZTR1-NS and have important implications for diagnosis, surveillance, and genetic counseling.
This retrospective single-center observational study aimed to characterize clinical phenotypes and pathogenic mutation spectra in Chinese children with hereditary spherocytosis (HS), analyze genotype–phenotype correlations. Clinical and genetic data of 48 pediatric HS patients admitted to the First Affiliate...
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