Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

Aditi Gupta; Sarah A Ewing; Deborah L Renaud; Linda Hasadsri; Kimiyo M Raymond; Eric W Klee; Ralitza H Gavrilova

doi:10.1002/ccr3.2010

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

Clin Case Rep. 2019 Feb 19;7(4):632-637. doi: 10.1002/ccr3.2010. eCollection 2019 Apr.

Authors

Aditi Gupta^{1

2}, Sarah A Ewing³, Deborah L Renaud^{4

5}, Linda Hasadsri⁶, Kimiyo M Raymond^{3

6}, Eric W Klee^{1

2

3

6}, Ralitza H Gavrilova^{3

5}

Affiliations

¹ Center for Individualized Medicine Mayo Clinic Rochester Minnesota.
² Department of Health Sciences Research Mayo Clinic Rochester Minnesota.
³ Department of Clinical Genomics Mayo Clinic Rochester Minnesota.
⁴ Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota.
⁵ Department of Neurology Mayo Clinic Rochester Minnesota.
⁶ Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota.

Abstract

We report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to EXT2 compound heterozygous likely pathogenic variants. This case report expands the EXT2 gene mutation database and the clinical spectrum of patients with deficiencies in the heparan sulfate pathway.

Keywords: EXT2; NDST1; genetics; neurology; whole exome sequencing.

Publication types

Case Reports