Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency

Avinash Abhyankar; Michelle Lamendola-Essel; Kelly Brennan; Jessica L Giordano; Cecilia Esteves; Vanessa Felice; Ronald Wapner; Vaidehi Jobanputra

doi:10.1002/ccr3.1284

Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency

Clin Case Rep. 2017 Dec 15;6(1):200-205. doi: 10.1002/ccr3.1284. eCollection 2018 Jan.

Authors

Avinash Abhyankar¹, Michelle Lamendola-Essel¹, Kelly Brennan², Jessica L Giordano², Cecilia Esteves¹, Vanessa Felice¹, Ronald Wapner², Vaidehi Jobanputra^{1

3}

Affiliations

¹ Molecular Diagnostics New York Genome Center New York city New York.
² Department of Obstetrics & Gynecology Columbia University Medical Center New York city New York.
³ Department of Pathology and Cell Biology Columbia University Medical Center New York city New York.

Abstract

We add two novel variants to the existing mutation spectrum of ASNS gene. Loss of ASNS function should be suspected in newborns presenting with congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Acquisition and sequencing of stored newborn blood spot can be a valuable option when no biological samples are available from a deceased child.

Keywords: Archived newborn blood spot; asparagine synthetase; asparagine synthetase deficiency; dried blood spot; whole exome sequencing.

Publication types

Case Reports