Abstract:
BACKGROUND:The deletion of the distal 7q region is a rare chromosomal syndrome characterized by wide phenotypic manifestations including growth and psychomotor delay, facial dysmorphisms, and genitourinary malformations. METHODS:We describe a 6-year-old child with a 12-Mb deletion of the region 7q35q36.3. RESULTS:Among the deleted genes, two genes have cardiac implications: PRKAG2 (OMIM #602743), associated with hypertrophic cardiomyopathy, cardiac conduction disease, and sudden death, and KCNH2 (OMIM #152427), coding for a cardiac potassium channel involved in long QT syndrome, unmasked by the chlorpheniramine treatment. At same time, the SHH gene (OMIM #600725), encoding sonic hedgehog, a secreted protein that is involved in the embryonic development, is deleted. CONCLUSION:Our report underlines potential cardiac complications linked to the common pharmacological treatment in this rare multiorgan and proteiform disease.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Di Stolfo G,Accadia M,Mastroianno S,Leone MP,Palumbo O,Palumbo P,Potenza D,Maccarone P,Sacco M,Russo A,Carella Mdoi
10.1002/mgg3.855subject
Has Abstractpub_date
2019-09-01 00:00:00pages
e855issue
9issn
2324-9269journal_volume
7pub_type
杂志文章abstract:BACKGROUND:Site-1 Protease (S1P) is a Golgi-resident protein required for the activation of regulatory proteins that drive key cellular functions, including, the unfolded protein response (UPR) and lipid and cholesterol biosynthesis. While disruptions in S1P function have been widely characterized in animal models, to ...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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journal_title:Molecular genetics & genomic medicine
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journal_title:Molecular genetics & genomic medicine
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2018-11-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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pub_type: 临床试验,杂志文章,多中心研究
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pub_type: 杂志文章
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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