Mutations in <i>HYAL2</i>, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice - Fig 2
Martina M. A. Muggenthaler
Biswajit Chowdhury
S. Naimul Hasan
Harold E. Cross
Brian Mark
Gaurav V. Harlalka
Michael A. Patton
Miho Ishida
Elijah R. Behr
Sanjay Sharma
Kenneth Zahka
Eissa Faqeih
Brian Blakley
Mike Jackson
Melissa Lees
Vernon Dolinsky
Leroy Cross
Philip Stanier
Claire Salter
Emma L. Baple
Fowzan S. Alkuraya
Andrew H. Crosby
Barbara Triggs-Raine
Barry A. Chioza
10.1371/journal.pgen.1006470.g002
https://plos.figshare.com/articles/figure/Mutations_in_i_HYAL2_i_Encoding_Hyaluronidase_2_Cause_a_Syndrome_of_Orofacial_Clefting_and_Cor_Triatriatum_Sinister_in_Humans_and_Mice_-_Fig_2/4548877
<p><b>Micro-CT images of the skulls of <i>Hyal2</i></b><sup><b><i>-/-</i></b></sup><b>and <i>Hyal2</i></b><sup><b><i>+/-</i></b></sup><b>mice, transthoracic echocardiography images of Amish individuals homozygous for <i>HYAL2</i> mutation c.443A>G, cardiac analysis in <i>Hyal2</i></b><sup><b><i>-/-</i></b></sup><b>and <i>Hyal2</i></b><sup><b><i>+/+</i></b></sup><b>mice</b> (A) 3D Images of <i>Hyal2</i><sup><i>-/-</i></sup> mice that died at P1, and the control (<i>Hyal2</i><sup><i>+/-</i></sup><i>)</i> which was sacrificed at P2, were created using CTvox software. All images were scanned and reconstructed using identical parameters and the dynamic range for the grey scale was held constant (i and ii). Dorsal views from the rostral end of the skull were prepared using a transfer function that colorized the grey scale such that areas of the bone with lower density are red (see density scale in image). (iii and iv). Ventral grey scale views of the skulls without the lower jaw. (v and vi). Space filled images of the vomer. * indicates the vomer head. Similar findings were evident in three additional <i>Hyal2</i><sup><i>-/-</i></sup> mice found dead at P1. These images are not to scale. E, ethmoid; V, vomer; PS, presphenoid; BS, basisphenoid; PM, premaxilla; MA, maxilla; PA, palantine. (B) (i & ii) Apical 4-chamber image of the heart is shown with right atrium (RA), left atrium (LA), right ventricle (RV), and left ventricle (LV) labelled. Presence of membranous tissue (*) in the LA of <i>Hyal2</i><sup><i>-/-</i></sup> mouse representing cor triatriatum sinister. (C) (i) Apical four chamber view of Amish individual XII:3: arrow indicates the membrane across the left atrium dividing the pulmonary venous confluence from the body of the left atrium (cor triatriatum sinister). (ii) Apical three chamber view with color. Doppler of individual XII:3: arrow indicates the anterior fenestration in the membrane dividing the left atrium, the laminar flow through the fenestration implies the non-obstructive nature of the membrane. (iii) Apical two chamber view of individual XII:9: arrow indicates the dilated coronary sinus indicative of a persistent left superior vena cava; RV: right ventricle, RA: right atrium, LV: left ventricle, LA: left atrium, CS: coronary sinus.</p>
2017-01-12 17:38:11
human
hyaluronan
palatal shelf matrix
Cor Triatriatum Sinister
submucosal cleft palate
cor triatriatum
mutation
Mice Orofacial clefting
component
HYAL 2
HYAL 2 gene
Hyal
HYAL 2 protein levels
syndromic orofacial clefting