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

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

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

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.

Original language	English (US)
Pages (from-to)	632-637
Number of pages	6
Journal	Clinical Case Reports
Volume	7
Issue number	4
DOIs	https://doi.org/10.1002/ccr3.2010
State	Published - Apr 2019

Keywords

EXT2
NDST1
genetics
neurology
whole exome sequencing

ASJC Scopus subject areas

Medicine(all)

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10.1002/ccr3.2010

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

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.",

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author = "Aditi Gupta and Ewing, {Sarah A.} and Renaud, {Deborah L.} and Linda Hasadsri and Raymond, {Kimiyo M.} and Klee, {Eric W.} and Gavrilova, {Ralitza H.}",

note = "Funding Information: This work was internally funded by the Center for Individualized Medicine at Mayo Clinic. Publisher Copyright: {\textcopyright} 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.",

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AU - Gupta, Aditi

AU - Ewing, Sarah A.

AU - Renaud, Deborah L.

AU - Hasadsri, Linda

AU - Raymond, Kimiyo M.

AU - Klee, Eric W.

AU - Gavrilova, Ralitza H.

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N2 - 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.

AB - 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.

KW - EXT2

KW - NDST1

KW - genetics

KW - neurology

KW - whole exome sequencing

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

Abstract

Keywords

ASJC Scopus subject areas

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