A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy

IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy Child Neuropsychiatric Unit, Mother and Child Department, AOU di Parma, Parma, Italy Dipartimento di Medicina Generale e Specialistica, U.O Neurologia, AOU di Parma, Parma, Italy Child Neuropsychiatric Unit, Medicine and Surgery Department, Neuroscience Section, University of Parma, Parma, Italy Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy

[1]  A. Nordgren,et al.  Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability , 2018, Clinical genetics.

[2]  M. Tarnopolsky,et al.  Early and lethal neurodegeneration with myasthenic and myopathic features , 2017, Neurology.

[3]  H. Rehm,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[4]  B. Meyer,et al.  Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome , 2014, Neuromuscular Disorders.

[5]  Jacqueline A Palace,et al.  Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. , 2012, American journal of human genetics.

[6]  H. Freeze,et al.  Neurology of inherited glycosylation disorders , 2012, The Lancet Neurology.

[7]  R. Rossi,et al.  Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. , 2012, Molecular genetics and metabolism.

[8]  A. Afenjar,et al.  Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations , 2010, Journal of Medical Genetics.

[9]  H. Tachikawa,et al.  Alg14 Recruits Alg13 to the Cytoplasmic Face of the Endoplasmic Reticulum to Form a Novel Bipartite UDP-N-acetylglucosamine Transferase Required for the Second Step of N-Linked Glycosylation* , 2005, Journal of Biological Chemistry.

[10]  E. Berger,et al.  Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. , 2004, Human molecular genetics.

[11]  P. Donnelly,et al.  Congenital myasthenic syndromes due to mutations in ALG 2 and ALG 14 , 2013 .