Johannes Spenger1, Esther M Maier2, Katharina Wechselberger3, Florian Bauder3, Melanie Kocher4, Wolfgang Sperl1, Martin Preisel1, Katharina A Schiergens2, Vassiliki Konstantopoulou5, Wulf Röschinger6, Johannes Häberle7, Thomas Schmitt-Mechelke3, Saskia B Wortmann1, Ralph Fingerhut7,8. 1. Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria. 2. Division of Metabolism, Dr. von Hauner Children's Hospital, D-80337 Munich, Germany. 3. Division of Neuropediatrics, Children's Hospital Lucerne, CH-6004 Lucerne, Switzerland. 4. Kinderarztpraxis Arche, CH-3270 Aarberg, Switzerland. 5. Austrian Newborn Screening Program, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria. 6. Division of Newborn Screening, Laboratory Becker & Colleagues, D-81671 Munich, Germany. 7. Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, CH-8032 Zurich, Switzerland. 8. Swiss Newborn Screening Laboratory, University Children's Hospital Zurich, CH-8032 Zurich, Switzerland.
Abstract
There was an error in the original publication [...].
There was an error in the original publication [...].
There was an error in the original publication [1]. In patient 2 and 3, a mutation (p.Arg257Glu) is mistakenly documented. Instead, the mutation is p.Arg257Gln. A correction has been made to Section 2. Case Reports, 2.2. Case 2, Paragraph 3; Section 2. Case Reports, 2.3. Case 3, Paragraph 1; Section 3. Results, Paragraph 1; Section 4. Discussion, Paragraph 1:Section 2. Case Reports, 2.2. Case 2, Paragraph 3: At the age of 10 years, genetic testing revealed previously described compound heterozygous variants in GCDH (p.Arg257Gln, p.Met405Val) [11,12], confirming the diagnosis of GA-1.Section 2. Case Reports, 2.3. Case 3, Paragraph 1: After the diagnosis was made (compound heterozygous variants in GCDH: p.Arg257Gln and p.Met405Val), she was admitted during an infection with poor oral intake, and a clear deterioration of the movement disorder was observed.Section 3. Results, Paragraph 1: Patients 2 and 3 were compound heterozygous for p.Arg257Gln and p.Met405Val, patient 1 was compound heterozygous for p.Gly241Val and p.Gly390Ala, and patient 4 was compound heterozygous for p.Arg257Trp and the novel variant p.Lys170Asn.Section 4. Discussion, Paragraph 1: Patients 2 and 3 are compound heterozygous for a previously described severe mutation (p.Arg257Gln) with 0% residual activity [11] and a milder mutation (p.Met405Val) with 4–25% residual activity that is more prevalent in African patients [12].The authors apologize for any inconvenience caused and state that the scientific conclusions are unaffected. The original publication has also been updated.
Authors: Johannes Spenger; Esther M Maier; Katharina Wechselberger; Florian Bauder; Melanie Kocher; Wolfgang Sperl; Martin Preisel; Katharina A Schiergens; Vassiliki Konstantopoulou; Wulf Röschinger; Johannes Häberle; Thomas Schmitt-Mechelke; Saskia B Wortmann; Ralph Fingerhut Journal: Int J Neonatal Screen Date: 2021-06-18