Publications by authors named "Tony Ming For Tong"
HKG is the first fully accessible variant database for Hong Kong Cantonese, constructed from 205 novel whole-exome sequencing data. There has long been a research gap in the understanding of the genetic architecture of southern Chinese subgroups, including Hong Kong Cantonese. HKG detected 196 325 high-quality variants with 5.
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- PTEN is a crucial tumor suppressor gene, inactivated in many cancers, and mutations in this gene are linked to PTEN Hamartoma Tumor Syndrome (PHTS), which can involve macrocephaly, benign growths, and increased cancer risk.
- A study of 13 patients suspected to have PHTS identified several mutations in the PTEN gene, including a significant I101T missense variant that greatly reduced PTEN protein levels and affected its function.
- The study suggests that mutations in PTEN may contribute to tissue overgrowth and autism-related traits in PHTS patients, highlighting the gene's role in both cancer and neurodevelopmental disorders.
Marfan syndrome is an autosomal dominant connective tissue disorder, and mutations in the FBN1 and TGFBR2 genes have been identified in probands with MFS and related phenotypes. Using DHPLC and sequencing, we studied the mutation spectrum in 65 probands with Marfan syndrome and related phenotypes. A total of 24 mutations in FBN1 were identified, of which 19 (nine missense, six frameshift, two nonsense and two affecting splice junctions) were novel.
View Article and Find Full Text PDFBackground: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive, allelic disorders. This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chinese patients with Duchenne or Becker muscular dystrophy (DMD/BMD), and to study genotype-phenotype correlation.
Methods: A retrospective review of 67 patients.