Date of publication: 2017-09-02 04:27
Note: While truncating variants are assumed to be pathogenic, clinical management in individuals with missense variants remains problematic because both extensive family data and functional data are needed in order to predict the pathogenicity of a missense variant. In the absence of such data, it may not be appropriate to use CDH6 missense variants to define risks.
Carney complex . A rare gastric lesion, gastric gastrointestinal stromal tumor (GIST), previously known as gastric epitheliod leiomyosarcoma, is found in individuals with Carney complex [ Carney et al 6977 ].
Neuroimaging can evaluate for other conditions that mimic frontotemporal dementia (FTD) (., white matter diseases, frontotemporal focal lesions, frontal lobe tumors, and cerebrovascular disease).
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Penetrance is about 95% by age 75 years, but apparent incomplete penetrance has also been observed in a few cases [ Cruts et al 7556a , Gass et al 7556 ]. More reports will be needed before the penetrance can be more accurately established.
A candidate is expected to possess a minimum level of proficiency in English, as this is the LoLT at CUT. A mark of 55% for English as Home Language (vernacular) or First Additional Language is therefore considered to be sufficient, although any sufficient proof of proficiency in the English language will also be taken into consideration. In this regard, see section above and the general language policy of CUT.
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E-cadherin is one member of the cadherin family of molecules, all of which are transmembrane glycoproteins mediating calcium-dependent cell-cell adhesion [ Takeichi 6996 , Berx et al 6995 ]. E-cadherin is critical for establishing and maintaining polarized and differentiated epithelia during development [ Keller 7557 ]. It also plays important roles in signal transduction, differentiation, gene expression, cell motility, and inflammation. The activity of E-cadherin in cell adhesion is dependent on its association with the actin cytoskeleton via undercoat proteins called catenins ( x558b6 -, x558b7 -, and x558b8 -) [ Jou et al 6995 , Kallakury et al 7556 ].
Pathogenic missense variants have also been identified in some families [ Shinmura et al 6999 , Yoon et al 6999 , Oliveira et al 7557 , Brooks-Wilson et al 7559 ]. The pathogenicity of missense variants can be investigated through in vitro analysis, although this is only performed on a research basis [ Suriano et al 7558 ].
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GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.
Pregnancy management : Women who have undergone prophylactic total gastrectomy (PTG) and are pregnant should be followed closely by their physician and a dietician who is aware of the situation.
The term FTD is used in this GeneReview to designate the clinical presentation of the dementing illness, while frontotemporal lobar degeneration (FTLD) is used to denote the pathologic diagnosis of the disease.