Publications by authors named "Jasmaine Lee"
Background: The identification of a heterozygous exonic GGC repeat expansion in ZFHX3 underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25-year diagnostic conundrum. We used adaptive long-read sequencing to decipher the pathogenic expansion in the index Utah family and an unrelated family from Iowa of Swedish ancestry. Contemporaneous to our discovery, other groups identified the same repeat expansion in affected individuals from Utah, Sweden, and Germany, highlighting the current pivotal time for detection of novel repeat expansion disorders.
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- Spinocerebellar ataxia type 4 (SCA4) is a genetic disorder characterized by ataxia and sensory neuropathy, first identified in a Utah family over 25 years ago, but its molecular cause remained unknown until now.
- Researchers utilized advanced long-read sequencing technology to investigate potential genetic variations in the SCA4-linked region, leading to a discovery of a specific GGC repeat expansion in the ZFHX3 gene among affected individuals.
- This study highlights the effectiveness of novel sequencing methods in uncovering rare genetic variants associated with complex inherited neurological disorders, which could improve diagnosis and understanding of these conditions.