RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

D Quelhas; J Jaeken; A Fortuna; L Azevedo; A Bandeira; G Matthijs; E Martins

doi:10.1007/8904_2018_112

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

JIMD Rep. 2019:43:111-116. doi: 10.1007/8904_2018_112. Epub 2018 Jun 20.

Authors

D Quelhas^{1

2}, J Jaeken³, A Fortuna^{4

5}, L Azevedo^{6

7

8}, A Bandeira⁹, G Matthijs¹⁰, E Martins^{5

9}

Affiliations

¹ Unidade de Bioquímica Genética, Centro de Genética Médica, Centro Hospitalar do Porto, Porto, Portugal. [email protected].
² Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal. [email protected].
³ Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.
⁴ Unidade de Bioquímica Genética, Centro de Genética Médica, Centro Hospitalar do Porto, Porto, Portugal.
⁵ Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal.
⁶ i3S-Instituto de Investigação e Inovação em Saúde, UP, Population Genetics and Evolution Group, Porto, Portugal.
⁷ IPATIMUP-Institute of Molecular Pathology and Immunology, UP, Porto, Portugal.
⁸ FCUP-Department of Biology, Faculty of Sciences, UP, Porto, Portugal.
⁹ Centro Referência Doenças Hereditárias do Metabolismo, Centro Hospitalar do Porto, Porto, Portugal.
¹⁰ Department of Human Genetics, KU Leuven, Leuven, Belgium.

Abstract

This report is on two novel patients with RFT1-CDG. Their phenotype is characterized by mild psychomotor disability, behavioral problems, ataxia, and mild dysmorphism. Neither of them shows signs of epilepsy, which was observed in all RFT1-CDG patients reported to date (n = 14). Also, deafness, which is often associated with this condition, was not observed in our patients. Molecular analysis of RFT1 showed biallelic missense variants including three novel ones: c.827G > A (p.G276D), c.73C > T (p.R25W), and c.208T > C (p.C70R).

Keywords: CDG; Congenital disorder(s) of glycosylation; Deafness; Phenotype; RFT1.