{"id":20972,"date":"2017-07-18T13:00:01","date_gmt":"2017-07-18T19:00:01","guid":{"rendered":"http:\/\/www.salud.carlosslim.org\/english2\/?p=20972"},"modified":"2017-07-18T15:02:57","modified_gmt":"2017-07-18T21:02:57","slug":"scientists-identify-a-new-gene-mutation-linked-to-a-type-of-skeletal-dysplasia","status":"publish","type":"post","link":"http:\/\/www.salud.carlosslim.org\/english2\/scientists-identify-a-new-gene-mutation-linked-to-a-type-of-skeletal-dysplasia\/","title":{"rendered":"Scientists Identify a New Gene Mutation Linked to a Type of Skeletal Dysplasia"},"content":{"rendered":"<p><strong><img loading=\"lazy\" decoding=\"async\" class=\"alignleft wp-image-20980\" src=\"http:\/\/www.salud.carlosslim.org\/english2\/wp-content\/uploads\/2017\/07\/mutaciones-gen-displasia.jpg\" alt=\"\" height=\"130\" width=\"196\" srcset=\"http:\/\/www.salud.carlosslim.org\/english2\/wp-content\/uploads\/2017\/07\/mutaciones-gen-displasia.jpg 600w, http:\/\/www.salud.carlosslim.org\/english2\/wp-content\/uploads\/2017\/07\/mutaciones-gen-displasia-300x199.jpg 300w, http:\/\/www.salud.carlosslim.org\/english2\/wp-content\/uploads\/2017\/07\/mutaciones-gen-displasia-250x166.jpg 250w\" sizes=\"auto, (max-width: 196px) 100vw, 196px\" \/>A team of researchers has identified a new gene involved in a form of growth deficiency, characterized by low size and small hands in humans, which opens the door to future treatments<\/strong>. The pathology is included in the group of skeletal dysplasias, a group of rare congenital diseases that affect bone and cartilage growth.<\/p>\n<p>For the study, the <strong>researchers used mass and conventional sequencing techniques in 668 patients, of whom 357 were disproportionately low in size<\/strong> (skeletal dysplasia alters the normal proportion between upper limb length and size) <strong>and 311 with idiopathic short stature<\/strong> (extreme short stature that does not have a diagnostic explanation).<\/p>\n<p>The paper, published in the journal <em>Genetics in Medicine<\/em>, <strong>describes for the first time the identification of two mutations in the NPPC gene in patients with small size and small hands in two independent families, one Spanish and the other from Brazil<\/strong>, with four and two affected members, respectively.<\/p>\n<p>Although this gene was already known, <strong>it is the first time that two mutations of this gene are associated as a molecular cause of this type of skeletal dysplasia<\/strong>, explains Karen Heath, researcher at the Hospital La Paz in Madrid and coordinator of this research. &nbsp;The <strong>NPPC gene produces a peptide \u2014small molecule\u2014 called C-Natriuretic that intervenes in the skeletal development<\/strong>.<\/p>\n<p>The authors suggest that treatment with analogues of the aforementioned peptide could be &#8220;<em>a promising therapeutic approach<\/em>.&#8221; This treatment is already in clinical trial phase for achondroplasia, the most common skeletal dysplasia, according to La Paz and Ciberer Hospital.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Source: <\/strong><em>Agencia ID<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>A team of researchers has identified a new gene involved in a form of growth deficiency, characterized by low size and small hands in humans, which opens the door to future treatments. The pathology is included in the group of skeletal dysplasias, a group of rare congenital diseases that affect bone and cartilage growth. For &#8230;<\/p>\n","protected":false},"author":7,"featured_media":20980,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"ngg_post_thumbnail":0,"footnotes":""},"categories":[3],"tags":[15],"class_list":["post-20972","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-actualidad-en-la-salud","tag-casalud","cat-3-id","has_thumb"],"_links":{"self":[{"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/posts\/20972","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/comments?post=20972"}],"version-history":[{"count":5,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/posts\/20972\/revisions"}],"predecessor-version":[{"id":20981,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/posts\/20972\/revisions\/20981"}],"wp:featuredmedia":[{"embeddable":true,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/media\/20980"}],"wp:attachment":[{"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/media?parent=20972"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/categories?post=20972"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/tags?post=20972"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}