Selmer et al report in EJMG, a family with 4 affected children who have been diagnosed with a mild form of Mucopolysaccharidosis IIIB through targeted next-generation sequencing of linked genomic regions. The patients aged 47-61, have been diagnosed with unspecified intellectual disability, retinitis pigmentosa, ataxia and cortical atrophy. Traditional investigations were not successful in providing an accurate diagnosis. This paper shows an example where the clinical use of next generation sequencing is used to correctly diagnose the mild form of a known genetic condition and demonstrates how new sequencing capabilities will help better understand the full phenotypic spectrum of the genetic disorders.
Periklis Makrythanasis MD, PhD
OMMBID Chapter 136: The Mucopolysaccharidoses