rs80338815

A PhD thesis investigating the feasibility of implementing expanded preconception carrier screening (ECS) for 474 genes in Western Australia. A pilot study recruited 231 couples and screened 225, identifying 7 novel high-risk couples (1 in 32 couples, or 3.1%) who carry pathogenic variants in the same gene. Six of these high-risk couples had women carrying X-linked pathogenic variants, indicating carrier screening can effectively identify at-risk couples and facilitate informed reproductive decision-making through the public health system.

This paper reports the identification of nine novel ARSA (arylsulfatase A) gene mutations in metachromatic leukodystrophy (MLD) patients, including five missense mutations, three frameshift mutations, and one splice donor site mutation. The mutations were identified through allele-specific PCR assays and comprehensive nucleotide sequencing of the ARSA gene in over 50 MLD patients. These findings have facilitated carrier detection and prenatal diagnosis for at-risk MLD families.

This study screened the arylsulfatase A (ASA) gene in 21 metachromatic leukodystrophy (MLD) patients and identified 10 novel mutations, including 9 missense mutations and 1 eight-base-pair deletion in exon 1. The researchers characterized 32 out of 42 (76.2%) mutant alleles using allele-specific oligonucleotide hybridization, chemical mismatch cleavage, and DNA sequencing. Genotype-phenotype correlations revealed that mutations such as 459+1G→A, A314T, S95N, R244H, and R244C were associated with severe late-infantile MLD phenotypes, while P426L and R384C were associated with slower juvenile disease progression.