Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice
Publication Date
January 12, 2017
Authors
Martina M. A. Muggenthaler, Biswajit Chowdhury, S. Naimul Hasan, Harold E. Cross, et al
Volume
13
Issue
1
Pages
e1006470
DOI
https://dx.plos.org/10.1371/journal.pgen.1006470
Publisher URL
http://journals.plos.org/plosgenetics/article?id=10.1371%2Fjournal.pgen.1006470
Scopus
85011357098
Mendeley
http://www.mendeley.com/research/mutations-hyal2-encoding-hyaluronidase-2-cause-syndrome-orofacial-clefting-cor-triatriatum-sinister
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Mendeley | Further Information

{"title"=>"Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice", "type"=>"journal", "authors"=>[{"first_name"=>"Martina M.A.", "last_name"=>"Muggenthaler", "scopus_author_id"=>"36911490200"}, {"first_name"=>"Biswajit", "last_name"=>"Chowdhury", "scopus_author_id"=>"56513465100"}, {"first_name"=>"S. Naimul", "last_name"=>"Hasan", "scopus_author_id"=>"57193166299"}, {"first_name"=>"Harold E.", "last_name"=>"Cross", "scopus_author_id"=>"7103267606"}, {"first_name"=>"Brian", "last_name"=>"Mark", "scopus_author_id"=>"7005209756"}, {"first_name"=>"Gaurav V.", "last_name"=>"Harlalka", "scopus_author_id"=>"55901921100"}, {"first_name"=>"Michael A.", "last_name"=>"Patton", "scopus_author_id"=>"7103317281"}, {"first_name"=>"Miho", "last_name"=>"Ishida", "scopus_author_id"=>"55111372900"}, {"first_name"=>"Elijah R.", "last_name"=>"Behr", "scopus_author_id"=>"6701515513"}, {"first_name"=>"Sanjay", "last_name"=>"Sharma", "scopus_author_id"=>"7405877896"}, {"first_name"=>"Kenneth", "last_name"=>"Zahka", "scopus_author_id"=>"6701671326"}, {"first_name"=>"Eissa", "last_name"=>"Faqeih", "scopus_author_id"=>"24778230900"}, {"first_name"=>"Brian", "last_name"=>"Blakley", "scopus_author_id"=>"7004869712"}, {"first_name"=>"Mike", "last_name"=>"Jackson", "scopus_author_id"=>"57193167132"}, {"first_name"=>"Melissa", "last_name"=>"Lees", "scopus_author_id"=>"7102997330"}, {"first_name"=>"Vernon", "last_name"=>"Dolinsky", "scopus_author_id"=>"6602386380"}, {"first_name"=>"Leroy", "last_name"=>"Cross", "scopus_author_id"=>"26324808900"}, {"first_name"=>"Philip", "last_name"=>"Stanier", "scopus_author_id"=>"7006454348"}, {"first_name"=>"Claire", "last_name"=>"Salter", "scopus_author_id"=>"57195339706"}, {"first_name"=>"Emma L.", "last_name"=>"Baple", "scopus_author_id"=>"16506238900"}, {"first_name"=>"Fowzan S.", "last_name"=>"Alkuraya", "scopus_author_id"=>"6602397795"}, {"first_name"=>"Andrew H.", "last_name"=>"Crosby", "scopus_author_id"=>"7006500922"}, {"first_name"=>"Barbara", "last_name"=>"Triggs-Raine", "scopus_author_id"=>"7003878306"}, {"first_name"=>"Barry A.", "last_name"=>"Chioza", "scopus_author_id"=>"6603239784"}], "year"=>2017, "source"=>"PLoS Genetics", "identifiers"=>{"scopus"=>"2-s2.0-85011357098", "sgr"=>"85011357098", "issn"=>"15537404", "doi"=>"10.1371/journal.pgen.1006470", "pmid"=>"28081210", "isbn"=>"1111111111", "pui"=>"614304509"}, "id"=>"a84320e6-cf55-3c41-9488-f046a782d43e", "abstract"=>"Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutations in the HYAL2 gene as a cause of syndromic orofacial clefting. HYAL2, encoding hyaluronidase 2, degrades extracellular hyaluronan, a critical component of the developing heart and palatal shelf matrix. Transfection assays demonstrated that the gene mutations destabilize the molecule, dramatically reducing HYAL2 protein levels. Consistent with the clinical presentation in affected individuals, investigations of Hyal2-/- mice revealed craniofacial abnormalities, including submucosal cleft palate. In addition, cor triatriatum sinister and hearing loss, identified in a proportion of Hyal2-/- mice, were also found as incompletely penetrant features in affected humans. Taken together our findings identify a new genetic cause of orofacial clefting in humans and mice, and define the first molecular cause of human cor triatriatum sinister, illustrating the fundamental importance of HYAL2 and hyaluronan turnover for normal human and mouse development.", "link"=>"http://www.mendeley.com/research/mutations-hyal2-encoding-hyaluronidase-2-cause-syndrome-orofacial-clefting-cor-triatriatum-sinister", "reader_count"=>19, "reader_count_by_academic_status"=>{"Unspecified"=>2, "Professor > Associate Professor"=>3, "Researcher"=>3, "Student > Ph. D. Student"=>2, "Other"=>1, "Student > Master"=>3, "Student > Bachelor"=>2, "Professor"=>3}, "reader_count_by_user_role"=>{"Unspecified"=>2, "Professor > Associate Professor"=>3, "Researcher"=>3, "Student > Ph. D. Student"=>2, "Other"=>1, "Student > Master"=>3, "Student > Bachelor"=>2, "Professor"=>3}, "reader_count_by_subject_area"=>{"Unspecified"=>3, "Biochemistry, Genetics and Molecular Biology"=>6, "Agricultural and Biological Sciences"=>5, "Medicine and Dentistry"=>4, "Veterinary Science and Veterinary Medicine"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>4}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>5}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>6}, "Unspecified"=>{"Unspecified"=>3}, "Veterinary Science and Veterinary Medicine"=>{"Veterinary Science and Veterinary Medicine"=>1}}, "reader_count_by_country"=>{"United States"=>1}, "group_count"=>1}

Scopus | Further Information

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