title: MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.
abstract: We report the first Palestinian child manifesting with 3-methylglutaconic aciduria psychomotor delay, muscle hypotonia, sensori-neural deafness, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of MEGDEL syndrome. MEGDEL syndrome was recently found to be caused by mutations in SERAC1, encoding a protein essential for mitochondrial function, phospholipid remodeling, and intracellular cholesterol trafficking. We identified a novel homozygous mutation in SERAC1 gene (c.1018delT) that generates frame shift and premature termination of protein translation. Plasma and cerebrospinal fluid lactate, plasma alanine, and respiratory chain complexes in fresh muscle were normal. This report further expands the genetic spectrum of MEGDEL syndrome and adds to the evidence that it is associated with variable patterns of respiratory chain abnormalities.
authors: An-Najah National University, Metabolic. Faculty of Medicine and Health Sciences, Nablus i.dweikat@najah.edu.
authors: Imad M
authors: IM
authors: Dweikat
authors: Makassed Hospital, Jerusalem.
authors: Samer
authors: S
authors: Abdelrazeq
authors: Makassed Hospital, Jerusalem.
authors: Suhail
authors: S
authors: Ayesh
authors: Makassed Hospital, Jerusalem.
authors: Tawfeeq
authors: T
authors: Jundi
mesh_terms: D018912:Arabs; D002265:Carboxylic Ester Hydrolases / Q000235:genetics*; D003241:Consanguinity; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000150:complications / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D019957:Motor Skills Disorders / Q000150:complications / Q000235:genetics*; D009123:Muscle Hypotonia / Q000150:complications / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
chemical_list: D002265:Carboxylic Ester Hydrolases; C576043:SERAC1 protein, human
keywords: Leigh-like syndrome; MEGDEL; sensorineural deafness