{"id":1508,"date":"2020-08-01T13:51:59","date_gmt":"2020-08-01T13:51:59","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1508"},"modified":"2026-02-23T23:52:08","modified_gmt":"2026-02-23T23:52:08","slug":"congenital-sensorineural-hearing-loss-as-the-initial-presentation-of-ptpn11-associated-noonan-syndrome-with-multiple-lentigines-or-noonan-syndrome-clinical-features-and-underlying-mechanisms","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/01\/congenital-sensorineural-hearing-loss-as-the-initial-presentation-of-ptpn11-associated-noonan-syndrome-with-multiple-lentigines-or-noonan-syndrome-clinical-features-and-underlying-mechanisms\/","title":{"rendered":"Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms (Contributed by Dr. Xue Gao)"},"content":{"rendered":"<p>Germline variants in <em>PTPN11<\/em> are the primary cause of Noonan syndrome with multiple lentigines (NSML) and Noonan syndrome (NS), which are both autosomal dominant congenital developmental disorders with high phenotypic variability that show substantial overlap in clinical features, such as facial dysmorphism, cardiovascular defects, hearing loss, and growth retardation. The NSML\/NS phenotypes are extremely heterogeneous. Hearing loss is considered to be an infrequent feature in NSML\/NS patients. However, in our cohort of 1,502 patients, we identified nine pathogenic variants of <em>PTPN11<\/em> in 10 probands (0.67%, 10\/1,502), in which congenital sensorineural hearing loss (SNHL) was the main manifestation. Therefore, screening for <em>PTPN11<\/em> variants in patients with congenital SNHL is recommended, even if they do not present with the typical features of NSML or NS. This study further showed <em>PTPN11<\/em>\u2019s ubiquitous expression pattern in mice inner ear, and the underlying mechanisms thereof, in the auditory system. We speculate that disturbance of the Wnt\/\u03b2\u2013catenin signaling pathway may play a role in the signaling mechanisms involved in NSML\/NS\u2013related hearing loss. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/07\/31\/jmedgenet-2020-106892\">https:\/\/jmg.bmj.com\/content\/early\/2020\/07\/31\/jmedgenet-2020-106892<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/01\/congenital-sensorineural-hearing-loss-as-the-initial-presentation-of-ptpn11-associated-noonan-syndrome-with-multiple-lentigines-or-noonan-syndrome-clinical-features-and-underlying-mechanisms\/untitled-32\/\" rel=\"attachment wp-att-1509\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1509\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-300x271.png\" alt=\"\" width=\"300\" height=\"271\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-300x271.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-1024x925.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-768x694.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled-640x578.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Untitled.png 1388w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Germline variants in PTPN11 are the primary cause of Noonan syndrome with multiple lentigines (NSML) and Noonan syndrome (NS), which are both autosomal dominant congenital developmental disorders with high phenotypic variability that show substantial overlap in clinical features, such as facial dysmorphism, cardiovascular defects, hearing loss, and growth retardation. The NSML\/NS phenotypes are extremely heterogeneous. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/01\/congenital-sensorineural-hearing-loss-as-the-initial-presentation-of-ptpn11-associated-noonan-syndrome-with-multiple-lentigines-or-noonan-syndrome-clinical-features-and-underlying-mechanisms\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1508","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms (Contributed by Dr. Xue Gao) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/01\/congenital-sensorineural-hearing-loss-as-the-initial-presentation-of-ptpn11-associated-noonan-syndrome-with-multiple-lentigines-or-noonan-syndrome-clinical-features-and-underlying-mechanisms\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms (Contributed by Dr. Xue Gao) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Germline variants in PTPN11 are the primary cause of Noonan syndrome with multiple lentigines (NSML) and Noonan syndrome (NS), which are both autosomal dominant congenital developmental disorders with high phenotypic variability that show substantial overlap in clinical features, such as facial dysmorphism, cardiovascular defects, hearing loss, and growth retardation. The NSML\/NS phenotypes are extremely heterogeneous. 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The NSML\/NS phenotypes are extremely heterogeneous. 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