Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2007-03-21

AUTHORS

Laura Torres-Juan, Jordi Rosell, Montse Morla, Catalina Vidal-Pou, Fernando García-Algas, Maria-Angeles de la Fuente, Miguel Juan, Albert Tubau, Daniel Bachiller, Marta Bernues, Angeles Perez-Granero, Nancy Govea, Xavier Busquets, Damian Heine-Suñer

ABSTRACT

A screen for TBX1 gene mutations identified two mutations in patients with some features compatible with the 22q11.2-deletion syndrome but with no deletions. One is a de novo missense mutation and the other is a 5′ untranslated region (5′UTR) C>T change that affects a nucleotide with a remarkable trans-species conservation. Computer modelling shows that the 5′UTR change is likely to affect the mRNA structure and in vitro translation experiments demonstrate that it produces a twofold increase in translation efficiency. Recently, duplications in the 22q11.2 region were reported in patients referred for fragile-X determination because of cognitive and behavioural problems. Because the 5′UTR nucleotide change may be a functional equivalent of a duplication of the TBX1 gene, we decided to screen 200 patients who had been referred for fragile-X determination and 400 healthy control individuals. As a result, we found the 5′UTR mutation to be present in three patients with mental retardation or behavioural problems and absent in control individuals of the same ethnic background. This observation suggests that it may be reasonable to screen for such mutation among patients with unspecific cognitive deficits and we provide an easy and quick way to do it with an amplification refractory mutation system (ARMS) approach. To our knowledge, this is the first human mutation showing that TBX1 is a candidate causing mental retardation associated with the 22q11.2 duplication syndrome. More... »

PAGES

658-663

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201819

DOI

http://dx.doi.org/10.1038/sj.ejhg.5201819

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1044429208

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/17377518


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30 schema:description A screen for TBX1 gene mutations identified two mutations in patients with some features compatible with the 22q11.2-deletion syndrome but with no deletions. One is a de novo missense mutation and the other is a 5′ untranslated region (5′UTR) C>T change that affects a nucleotide with a remarkable trans-species conservation. Computer modelling shows that the 5′UTR change is likely to affect the mRNA structure and in vitro translation experiments demonstrate that it produces a twofold increase in translation efficiency. Recently, duplications in the 22q11.2 region were reported in patients referred for fragile-X determination because of cognitive and behavioural problems. Because the 5′UTR nucleotide change may be a functional equivalent of a duplication of the TBX1 gene, we decided to screen 200 patients who had been referred for fragile-X determination and 400 healthy control individuals. As a result, we found the 5′UTR mutation to be present in three patients with mental retardation or behavioural problems and absent in control individuals of the same ethnic background. This observation suggests that it may be reasonable to screen for such mutation among patients with unspecific cognitive deficits and we provide an easy and quick way to do it with an amplification refractory mutation system (ARMS) approach. To our knowledge, this is the first human mutation showing that TBX1 is a candidate causing mental retardation associated with the 22q11.2 duplication syndrome.
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37 schema:keywords TBX1 gene
38 TBX1 gene mutations
39 Tbx1
40 amplification refractory mutation system (ARMS) approach
41 approach
42 background
43 behavioral problems
44 candidates
45 changes
46 cognitive deficits
47 computer modelling
48 conservation
49 control individuals
50 deficits
51 deletion
52 determination
53 duplication
54 duplication syndrome
55 efficiency
56 equivalent
57 ethnic background
58 experiments
59 factors
60 features
61 first human mutation
62 functional equivalent
63 gene mutations
64 genes
65 healthy control individuals
66 human mutations
67 increase
68 individuals
69 knowledge
70 mRNA structure
71 mental retardation
72 missense mutations
73 modelling
74 mutation system (ARMS) approach
75 mutations
76 new susceptibility factor
77 novo missense mutation
78 nucleotide changes
79 nucleotides
80 observations
81 patients
82 problem
83 quick way
84 refractory mutation system (ARMS) approach
85 region
86 region C
87 remarkable trans-species conservation
88 results
89 retardation
90 same ethnic background
91 screen
92 structure
93 such mutations
94 susceptibility factors
95 syndrome
96 systems approach
97 trans-species conservation
98 translation efficiency
99 translation experiments
100 twofold increase
101 unspecific cognitive deficits
102 untranslated region C
103 way
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