TL;DR
W Whole-exome sequencing identified compound heterozygous NEU1 variants, including a previously reported pathogenic variant, c.679G > A (p.Gly227Arg), and a novel in-frame deletion, which is not represented in databases c.367_369del (p.Pro123del).
This case highlights the wide phenotypic spectrum of CX43-related disorders and suggests the importance of testing the GJA1 gene in individuals with atypical presentations, including predominant or isolated neurological phenotypes such as late-onset spastic paraplegia.
Background: Genetic testing is an increasingly important component in the diagnostic evaluation of kidney diseases. Pathogenic variants in the HNF1B gene cause a disorder classically known as renal cysts and diabetes (RCAD) syndrome, typically characterised by bilateral renal cysts, diabetes mellitus, and a broad spect...
Background/Objectives: Pathogenic variants in collagen type 4 α5 chain (COL4A5), responsible for X-linked Alport syndrome, are classically associated with progressive kidney disease, sensorineural hearing impairment, and ocular abnormalities. Cerebrovascular involvement is not considered part of the COL4A5-related phen...
The phenotypic spectrum of CMS type 11 is characterized by a wide phenotypic spectrum – from a mild limb-girdle phenotype with extraocular involvement and childhood onset to severe forms with neonatal manifestation and respiratory failure, and early orthopedic complications.
Agammaglobulinemia type 1 (AGM1) is a rare autosomal recessive inborn error of immunity caused by biallelic defects in the immunoglobulin heavy constant mu gene (IGHM), resulting in arrested B-cell development, profound antibody deficiency, and recurrent bacterial infections. Owing to its rarity and genetic heterogen...
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