Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders
| Autor: | Karen Y. Niederhoffer, Patrice Eydoux, John B. Mawson, Gen Nishimura, Millan S. Patel, Somayyeh Fahiminiya, Loydie A. Jerome-Majewska |
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| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty Contracture DNA Copy Number Variations Context (language use) Blepharophimosis Multimodal Imaging Polymorphism Single Nucleotide 03 medical and health sciences Arachnodactyly Marden–Walker syndrome Intellectual disability Genetics medicine Humans Abnormalities Multiple Exome Congenital contractural arachnodactyly Child Frameshift Mutation Genetic Association Studies Genetics (clinical) Exome sequencing Oligonucleotide Array Sequence Analysis business.industry Homozygote High-Throughput Nucleotide Sequencing Van den Ende-Gupta syndrome medicine.disease Dermatology Scavenger Receptors Class F 3. Good health Phenotype 030104 developmental biology business |
| Zdroj: | American Journal of Medical Genetics Part A. 170:2310-2321 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.37831 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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