title: Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.
abstract: We report on a sister and two brothers born to healthy Iranian parents with mild intellectual disability, progressive muscle weakness, and characteristic facies. including highly arched eyebrows, down-slanting palpebral fissures, prominent nasal bridge, prominent nose, columella extending below alae nasi, narrow mouth, narrow palate, and dental caries, and in one of them an inability to abduct the left eye. Electrophysiological studies showed signs of myopathy, and muscle biopsies demonstrated only nonspecific signs. Brain MRIs in two of the sibs showed leukencephalopathy with delayed myelination, frontal and parietal hyperintensities, and hippocampal atrophy in one. We have been unable to find a description of this association of features in literature. Based on the occurrence in siblings, no significant difference in phenotype between the brothers and sister, absence of manifestations in parents, and a likely consanguinity between parents we performed a homozygosity mapping. A single identical-by-descent bloc encompassing 57 genes located at 3p24.3-p25.3 was found to segregate within the family with this phenotype. © 2015 Wiley Periodicals, Inc.
authors.affiliation: Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
authors.forename: Ariana
authors.initials: A
authors.lastname: Kariminejad
authors.affiliation: Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Shahriar
authors.initials: S
authors.lastname: Nafissi
authors.affiliation: Pediatric Pathology Research Center, Mofid Children's Hospital, Shahid Beheshti Medical University, Tehran, Iran.
authors.forename: Yalda
authors.initials: Y
authors.lastname: Nilipoor
authors.affiliation: Department of Pediatric Neurology, Pediatrics Centre of Excellence, Children's Medical Centre, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Tavasoli
authors.affiliation: Department of Cellular Molecular Medicine, LIPIT, KU Leuven, Leuven, Belgium.
authors.forename: Paul P
authors.initials: PP
authors.lastname: Van Veldhoven
authors.affiliation: Institute of Medical Biology, A*STAR, Singapore.
authors.forename: Carine
authors.initials: C
authors.lastname: Bonnard
authors.affiliation: Institute of Medical Biology, A*STAR, Singapore.
authors.forename: Yeng Ting
authors.initials: YT
authors.lastname: Ng
authors.affiliation: Department of Radiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Charles B
authors.initials: CB
authors.lastname: Majoie
authors.affiliation: Institute of Medical Biology, A*STAR, Singapore.
authors.forename: Bruno
authors.initials: B
authors.lastname: Reversade
authors.affiliation: Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Raoul C
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D019066:Facies; D005260:Female; D005808:Genes, Recessive; D056726:Genetic Association Studies; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D018908:Muscle Weakness / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D035781:Siblings; D013577:Syndrome
keywords: autosomal recessive; muscle weakness; newly described syndrome