title: Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.
abstract: Marden-Walker syndrome is challenging to diagnose, as there is significant overlap with other multi-system congenital contracture syndromes including Beals congenital contractural arachnodactyly, D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome), Schwartz-Jampel syndrome, Freeman-Sheldon syndrome, Cerebro-oculo-facio-skeletal syndrome, and Van den Ende-Gupta syndrome. We discuss this differential diagnosis in the context of a boy from a consanguineous union with Van den Ende-Gupta syndrome, a diagnosis initially confused by the atypical presence of intellectual disability. SNP microarray and whole exome sequencing identified a homozygous frameshift mutation (p.L870V) in SCARF2 and predicted damaging mutations in several genes, most notably DGCR2 (p.P75L) and NCAM2 (p.S147G), both possible candidates for this child's intellectual disability. We review distinguishing features for each Marden-Walker-like syndrome and propose a clinical algorithm for diagnosis among this spectrum of disorders. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Karen Y
authors.initials: KY
authors.lastname: Niederhoffer
authors.affiliation: Department of Human Genetics, Pediatrics, McGill University, Montreal, Quebec, Canada.
authors.forename: Somayyeh
authors.initials: S
authors.lastname: Fahiminiya
authors.affiliation: Department of Pathology Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Patrice
authors.initials: P
authors.lastname: Eydoux
authors.affiliation: Department of Radiology, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: John
authors.initials: J
authors.lastname: Mawson
authors.affiliation: Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Department of Human Genetics, Pediatrics, McGill University, Montreal, Quebec, Canada.|Pediatrics, McGill University, Montreal, Quebec, Canada.
authors.forename: Loydie A
authors.initials: LA
authors.lastname: Jerome-Majewska
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Millan S
authors.initials: MS
authors.lastname: Patel
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D054119:Arachnodactyly / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D016569:Blepharophimosis / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D002648:Child; D003286:Contracture / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D056915:DNA Copy Number Variations; D059472:Exome; D016368:Frameshift Mutation; D056726:Genetic Association Studies; D059014:High-Throughput Nucleotide Sequencing; D006720:Homozygote; D006801:Humans; D008297:Male; D064847:Multimodal Imaging; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D051128:Scavenger Receptors, Class F / Q000235:genetics
chemical_list: C469357:SCARF2 protein, human; D051128:Scavenger Receptors, Class F
keywords: DGCR2; Marden-Walker syndrome; NCAM2; Van den Ende-Gupta syndrome; arachnodactyly; contracture; intellectual disability