Open AccessClinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency
Author(s) -
Abhyankar Avinash,
LamendolaEssel Michelle,
Brennan Kelly,
Giordano Jessica L.,
Esteves Cecilia,
Felice Vanessa,
Wapner Ronald,
Jobanputra Vaidehi
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1284
Subject(s) - exome sequencing , medicine , newborn screening , microcephaly , dried blood spot , mutation , intellectual disability , global developmental delay , bioinformatics , genetics , pediatrics , gene , phenotype , biology , psychiatry
Key Clinical Message 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.