Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-06-12

AUTHORS

Carmela Fusco, Lucia Micale, Bartolomeo Augello, Maria Teresa Pellico, Deny Menghini, Paolo Alfieri, Maria Cristina Digilio, Barbara Mandriani, Massimo Carella, Orazio Palumbo, Stefano Vicari, Giuseppe Merla

ABSTRACT

Williams Beuren syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5 Mb on chromosome 7q11.23 spanning 28 genes. A few patients with larger and smaller WBS deletion have been reported. They show clinical features that vary between isolated SVAS to the full spectrum of WBS phenotype, associated with epilepsy or autism spectrum behavior. Here we describe four patients with atypical WBS 7q11.23 deletions. Two carry ∼3.5 Mb larger deletion towards the telomere that includes Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxigenase activation protein gamma (YWHAG) genes. Other two carry a shorter deletion of ∼1.2 Mb at centromeric side that excludes the distal WBS genes BAZ1B and FZD9. Along with previously reported cases, genotype–phenotype correlation in the patients described here further suggests that haploinsufficiency of HIP1 and YWHAG might cause the severe neurological and neuropsychological deficits including epilepsy and autistic traits, and that the preservation of BAZ1B and FZD9 genes may be related to mild facial features and moderate neuropsychological deficits. This report highlights the importance to characterize additional patients with 7q11.23 atypical deletions comparing neuropsychological and clinical features between these individuals to shed light on the pathogenic role of genes within and flanking the WBS region. More... »

PAGES

64-70

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2013.101

DOI

http://dx.doi.org/10.1038/ejhg.2013.101

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1007560194

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23756441


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64 facial features
65 facial phenotype
66 features
67 full spectrum
68 gamma gene
69 genes
70 genes BAZ1B
71 genotype-phenotype correlation
72 haploinsufficiency
73 haploinsufficiency of HIP1
74 hemizygous deletion
75 huntingtin
76 implicate genes
77 importance
78 individuals
79 large deletions
80 light
81 mild facial features
82 mild facial phenotype
83 moderate neuropsychological deficits
84 multisystemic disorder
85 neuropsychological deficits
86 pathogenic role
87 patients
88 phenotype
89 preservation
90 preservation of BAZ1B
91 protein 1
92 protein gamma (YWHAG) genes
93 region
94 region implicate genes
95 report
96 role
97 short deletions
98 side
99 smaller WBS deletion
100 spectra
101 spectrum behavior
102 syndrome
103 syndrome region implicate genes
104 traits
105 tryptophan
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