Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome.

Overall, DONSON expression levels in RNA-seq showed a trend toward lower expression in heterozygous parents and homozygous MMS cases, but these differences were not statistically significant (controls: 5.2 ± 2.8 fragments per kilobase per million mapped reads [FPKM mean ± std dev], parents: 3.9 ± 2.4 FPKM, MMS cases: 3.4 ± 1.7 FPKM; P -value >0.05 for all comparisons).

also in 53,322 other papers

We tested this approach by applying it to microcephaly-micromelia syndrome (MMS), a condition for which we had highly significant statistical linkage to a genetic locus but for which no obvious pathogenic coding or splicing mutation had been found by DNA sequencing.

also in 132,142 other papers