TY - JOUR
TI - Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: One novel mutation and two rare cases
AU - Schulpis, K.H.
AU - Thodi, G.
AU - Iakovou, K.
AU - Chatzidaki, M.
AU - Dotsikas, Y.
AU - Molou, E.
AU - Triantafylli, O.
AU - Loukas, Y.L.
JO - Journal of Pediatric Endocrinology and Metabolism
PY - 2017
VL - 30
TODO - 7
SP - 775-779
PB - Walter de Gruyter GmbH
SN - null
TODO - 10.1515/jpem-2017-0065
TODO - asparagine;  galactokinase;  proline;  serine;  threonine;  galactokinase;  GALK1 protein, human, allele;  Article;  child;  clinical article;  clinical evaluation;  computer analysis;  female;  galactosemia;  GALE gene;  GALK gene;  gene;  gene identification;  gene mutation;  Greece;  human;  infant;  male;  mutational analysis;  newborn screening;  patient referral;  preschool child;  psychomotor development;  psychomotor disorder;  rare disease;  Romani (people);  Sanger sequencing;  speech development;  speech disorder;  complication;  dna mutational analysis;  evaluation study;  galactosemia;  genetics;  mental disease;  mutation;  newborn;  pathology;  prognosis, Alleles;  Child, Preschool;  DNA Mutational Analysis;  Female;  Galactokinase;  Galactosemias;  Greece;  Humans;  Infant;  Infant, Newborn;  Male;  Mental Disorders;  Mutation;  Prognosis
TODO - Background: Deficiencies of galactokinase (GALK) and UDP-epimerase (GALE) are implicated with galactose metabolic disorders. The aim of the study was the identification of mutations in GALK and GALE genes and clinical evaluation of patients. Methods: Five patients with GALK and five with GALE deficiency were picked up via the Neonatal Screening Program. Additionally, two females, 4 years old, were referred with late diagnosed galactosemia, as rare cases. Mutational analysis was conducted via Sanger sequencing, while in silico analysis tools were utilized for the novel mutation. Psychomotor and speech development tests were performed, as well. Results: The mutation p.Pro28Thr was identified in both alleles in GALK-deficient patients of Roma (gypsy) origin, whereas the novel p.Asn39Ser was detected in two non-Roma patients. In GALE-deficient patients benign and/or likely benign mutations were found. Psychomotor and speech delay were determined in the Roma GALK patients. In each of the late diagnosed females, four mutations were identified in all galactosemia-related genes. Conclusions: The mutational spectrums of GALE- and GALK-deficient patients in Greece are presented for the first time along with a clinical evaluation. Mutational analysis in all galactosemia-related genes of symptomatic patients is highly recommended for future cases. © 2017 Walter de Gruyter GmbH, Berlin/Boston.
ER -