Hereditary leiomyomatosis and renal cell cancer study with SNP/CNV Genotypes (NGS), WGS data on dbGaP (4 participants)

phs003381 — Cryptic Splice Mutation in the Fumarate Hydratase Gene in Patients With    Clinical Manifestations of Hereditary Leiomyomatosis and Renal Cell    Cancer (HLRCC)

<p>Four patients with hysterectomy were evaluated for biochemical and molecular evidence of autosomal dominant Fumarate Hydratase (FH) alterations causing <a href="https://medlineplus.gov/genetics/condition/hereditary-leiomyomatosis-and-renal-cell-cancer/">Hereditary Leiomyomatosis and Renal Cell Cancer</a> (HLRCC). HLRCC is an autosomal dominant condition characterized by the development of cutaneous and uterine leiomyomas, and risk for development of an aggressive form of papillary renal cell cancer. Enzyme assay, western blot analyses, direct nanopore RNA sequencing, and whole genome sequencing (WGS) were utilized. The study identified a cryptic splice mutation in intron 9 of the <a href="https://www.ncbi.nlm.nih.gov/gene/2271">FH</a> gene that results in retention of 57 base pairs of intronic sequence in the affected allele of the mature FH mRNA.</p>

Cryptic Splice Mutation in the Fumarate Hydratase Gene in Patients With    Clinical Manifestations of Hereditary Leiomyomatosis and Renal Cell    Cancer (HLRCC)