Gene expression profiling of familial Kallmann syndrome caused by a novel ANOS1 variant
This RNA-seq dataset contains whole blood transcriptome profiles from individuals with X-linked familial Kallmann syndrome associated with a new variant in the ANOS1 gene (c.452G>C). Samples were collected from two affected male siblings, their mother, and controls. Total RNA was extracted from whole blood, and ribosomal RNA was depleted prior to library preparation using the KAPA RNA HyperPrep Kit with RiboErase. Paired-end RNA sequencing was performed on the Illumina NovaSeq X Plus platform, generating approximately 100 million paired-end reads per sample. Sequencing utilized 1% of a 10B, 300-cycle flow cell, which produces up to 20 billion paired-end reads per flow cell. This dataset enables a comprehensive analysis of gene expression and splicing patterns associated with ANOS1-related Kallmann syndrome, providing a valuable resource for studying transcriptomic alterations in hypogonadotropic hypogonadism. Overall design: Whole blood RNA-seq was performed on samples from five individuals, including two affected males with X-linked Kallmann syndrome (ages 9 and 15), one heterozygous female carrier (age 40), and two unaffected controls (one male aged 9 years and one female aged 38 years). The study design enables a comparison of transcriptomic profiles between affected individuals, carriers, and age- and sex-matched controls.