Case report: A diagnostic odyssey solved
Apr 04, 2019

Many times genetic testing is the only solution to avoid a never-ending diagnostic odyssey.

Patient information

A 5-month-old male presented with hypotonia, neonatal hypoglycemia, a sacral vestigial tail, and reflux.

Previous genetic testing

Previous testing included over a dozen different investigations without a diagnosis (genetic, biochemical, and imaging testing).

Genetic testing

A Whole Exome Family Plus Test, including sequencing and CNV analysis for the proband and unaffected parents, was requested.

> Whole Exome Family Plus 

Diagnostic summary

The patient was identified to have a heterozygous nonsense variant, c.5543T>G, p.(Leu1848*) in NSD1. This variant has been identified in a cohort of individuals with a clinical diagnosis of Sotos syndrome.

Diagnostic implications

As the NSD1 variant was not identified in either parent, the risk for the patient’s parents to have another affected child is expected to be low.

Blueprint Genetics’ Take Home

After a diagnostic odyssey involving over a dozen different investigations, none of which were informative, the WES Family Plus analysis at Blueprint Genetics was able to make a diagnosis of Sotos syndrome and provide an answer for the family.

Read the full case report.


Last modified: October 29, 2020