Literature DB >> 29923091

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

D Quelhas1,2, J Jaeken3, A Fortuna4,5, L Azevedo6,7,8, A Bandeira9, G Matthijs10, E Martins5,9.   

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).

Entities:  

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

Year:  2018        PMID： 29923091      PMCID： PMC6323008          DOI： 10.1007/8904_2018_112

Source DB:  PubMed          Journal:  JIMD Rep        ISSN： 2192-8304


  13 in total

1.  Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

Authors:  F Imtiaz; V Worthington; M Champion; C Beesley; J Charlwood; P Clayton; G Keir; N Mian; B Winchester
Journal:  J Inherit Metab Dis       Date:  2000-03       Impact factor: 4.982

2.  Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Authors:  Fatma Bastaki; Sami Bizzari; Sana Hamici; Pratibha Nair; Madiha Mohamed; Fatima Saif; Ethar Mustafa Malik; Mahmoud Taleb Al-Ali; Abdul Rezzak Hamzeh
Journal:  Ann Hum Genet       Date:  2017-09-21       Impact factor: 1.670

3.  A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

Authors:  Celia Pérez-Cerdá; Ma Luisa Girós; Mercedes Serrano; M Jesús Ecay; Laura Gort; Belén Pérez Dueñas; Celia Medrano; Alfredo García-Alix; Rafael Artuch; Paz Briones; Belén Pérez
Journal:  J Pediatr       Date:  2017-01-27       Impact factor: 4.406

4.  RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy.

Authors:  Alec Aeby; Cynthia Prigogine; Catheline Vilain; Geneviève Malfilatre; Jaak Jaeken; Damien Lederer; Patrick Van Bogaert
Journal:  Epileptic Disord       Date:  2016-03       Impact factor: 1.819

5.  Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Authors:  Carmen Barba; Francesca Darra; Raffaella Cusmai; Elena Procopio; Carlo Dionisi Vici; Liesbeth Keldermans; Sandrine Vuillaumier-Barrot; Dirk J Lefeber; Renzo Guerrini
Journal:  Dev Med Child Neurol       Date:  2016-05-13       Impact factor: 5.449

6.  RFT1 deficiency in three novel CDG patients.

Authors:  Wendy Vleugels; Micha A Haeuptle; Bobby G Ng; Jean-Claude Michalski; Roberta Battini; Carlo Dionisi-Vici; Mark D Ludman; Jaak Jaeken; François Foulquier; Hudson H Freeze; Gert Matthijs; Thierry Hennet
Journal:  Hum Mutat       Date:  2009-10       Impact factor: 4.878

7.  Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In).

Authors:  P T Clayton; S Grunewald
Journal:  J Inherit Metab Dis       Date:  2009-03-11       Impact factor: 4.982

8.  Human RFT1 deficiency leads to a disorder of N-linked glycosylation.

Authors:  Micha A Haeuptle; François M Pujol; Christine Neupert; Bryan Winchester; Alexander J Kastaniotis; Markus Aebi; Thierry Hennet
Journal:  Am J Hum Genet       Date:  2008-02-28       Impact factor: 11.025

9.  RFT1-CDG in adult siblings with novel mutations.

Authors:  Nina Ondruskova; Katerina Vesela; Hana Hansikova; Martin Magner; Jiri Zeman; Tomas Honzik
Journal:  Mol Genet Metab       Date:  2012-10-13       Impact factor: 4.797

10.  The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Authors:  Dorota Monies; Mohamed Abouelhoda; Moeenaldeen AlSayed; Zuhair Alhassnan; Maha Alotaibi; Husam Kayyali; Mohammed Al-Owain; Ayaz Shah; Zuhair Rahbeeni; Mohammad A Al-Muhaizea; Hamad I Alzaidan; Edward Cupler; Saeed Bohlega; Eissa Faqeih; Maha Faden; Banan Alyounes; Dyala Jaroudi; Ewa Goljan; Hadeel Elbardisy; Asma Akilan; Renad Albar; Hesham Aldhalaan; Shamshad Gulab; Aziza Chedrawi; Bandar K Al Saud; Wesam Kurdi; Nawal Makhseed; Tahani Alqasim; Heba Y El Khashab; Hamoud Al-Mousa; Amal Alhashem; Imaduddin Kanaan; Talal Algoufi; Khalid Alsaleem; Talal A Basha; Fathiya Al-Murshedi; Sameena Khan; Adila Al-Kindy; Maha Alnemer; Sami Al-Hajjar; Suad Alyamani; Hasan Aldhekri; Ali Al-Mehaidib; Rand Arnaout; Omar Dabbagh; Mohammad Shagrani; Dieter Broering; Maha Tulbah; Amal Alqassmi; Maisoon Almugbel; Mohammed AlQuaiz; Abdulaziz Alsaman; Khalid Al-Thihli; Raashda A Sulaiman; Wajeeh Al-Dekhail; Abeer Alsaegh; Fahad A Bashiri; Alya Qari; Suzan Alhomadi; Hisham Alkuraya; Mohammed Alsebayel; Muddathir H Hamad; Laszlo Szonyi; Faisal Abaalkhail; Sulaiman M Al-Mayouf; Hamad Almojalli; Khalid S Alqadi; Hussien Elsiesy; Taghreed M Shuaib; Mohammed Zain Seidahmed; Ibraheem Abosoudah; Hana Akleh; Abdulaziz AlGhonaium; Turki M Alkharfy; Fuad Al Mutairi; Wafa Eyaid; Abdullah Alshanbary; Farrukh R Sheikh; Fahad I Alsohaibani; Abdullah Alsonbul; Saeed Al Tala; Soher Balkhy; Randa Bassiouni; Ahmed S Alenizi; Maged H Hussein; Saeed Hassan; Mohamed Khalil; Brahim Tabarki; Saad Alshahwan; Amira Oshi; Yasser Sabr; Saad Alsaadoun; Mustafa A Salih; Sarar Mohamed; Habiba Sultana; Abdullah Tamim; Moayad El-Haj; Saif Alshahrani; Dalal K Bubshait; Majid Alfadhel; Tariq Faquih; Mohamed El-Kalioby; Shazia Subhani; Zeeshan Shah; Nabil Moghrabi; Brian F Meyer; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2017-06-09       Impact factor: 4.132
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  1 in total

1.  Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review.

Authors:  Rossella Colantuono; Elisa D'Acunto; Daniela Melis; Pietro Vajro; Hudson H Freeze; Claudia Mandato
Journal:  J Pediatr Gastroenterol Nutr       Date:  2021-10-01       Impact factor: 3.288
  1 in total

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