THURSDAY, March 23, 2017 (HealthDay News) -- Researchers say they have found the genetic cause of a rare disorder that causes children to be born with deafness, blindness, albinism and fragile bones.
The syndrome is called COMMAD. It occurs when children inherit two mutations -- one from each parent -- of a gene called MITF. Each parent is also deaf due to another rare genetic disorder called Waardenburg syndrome 2A.
Further research is needed to learn more about the role of MITF during early development and how mutations in this gene result in the development of Waardenburg 2A and COMMAD, said researchers from the U.S. National Eye Institute (NEI).
COMMAD stands for the names of a number of conditions that affect people with this disorder. It includes missing tissue around the eye; abnormally dense bones prone to fracture; small or abnormally formed eyes; an abnormally large head; albinism (lack of melanin in the skin, eyes and hair), and deafness.
Identifying the genetic cause of COMMAD is important because deaf people commonly choose to marry other deaf persons. People who are deaf may not know that their deafness is associated with Waardenburg 2A, the researchers explained.
Deaf couples may want to consider genetic counseling prior to conceiving a child. If both potential parents have Waardenburg 2A, they risk passing mutated versions of MITF to their children, who would then have COMMAD, study lead author Dr. Brian Brooks said in a NEI news release.
Brooks is chief of the NEI's Pediatric, Developmental, and Genetic Ophthalmology section.
The study describes two unrelated cases of children born with COMMAD who inherited the two mutations of MITF from their parents.
Most people who are born deaf don't have Waardenburg 2A. Along with hearing loss, people with the syndrome have premature graying of the hair, blue eyes, fair skin and sometimes vision problems, the researchers said.
The study was published recently in the American Journal of Human Genetics.
See original here:
Scientists Spot Gene for Rare Disorder Causing Deafness, Blindness - Montana Standard
- AI has perfect detection rate for severe cases of condition that causes blindness in preemies - OHSU News - March 10th, 2024
- PulseSight launches with gene therapy platform targeting age-related blindness - Longevity.Technology - March 10th, 2024
- AIOS and RANZCO Unite to Combat Preventable Blindness - Hindustan Times - March 10th, 2024
- Baby born without eyes defies the odds as she thrives despite blindness - Express - March 10th, 2024
- Penn Medicine Accelerator Program to Boost AI-Powered Projects Targeting Blindness and Cervical Cancer - India Education Diary - March 10th, 2024
- Scientists discover gut bacteria`s role in genetically-linked vision loss - WION - February 27th, 2024
- Prevent Blindness launches new Retinopathy of Prematurity Education and Support Program as part of inaugural ... - Modern Retina - February 27th, 2024
- Revolutionizing Eye Disease Treatment: The Unseen Link Between Gut Bacteria and Blindness - Medriva - February 27th, 2024
- The Virtue of Color-Blindness & The End of Race Politics: Arguments for a Colorblind America Book Review - National Review - February 27th, 2024
- Sight loss could be treated by antibiotics after being linked to gut bacteria - The Independent - February 27th, 2024
- Prevent Blindness Launches New "Retinopathy of Prematurity (ROP) Education and Support Program" as Part of ... - PR Web - February 27th, 2024
- $35 million to fight blindness with manufactured corneas | Health Portfolio Ministers | Australian Government ... - Department of Health - February 10th, 2024
- Eye care, vision impairment and blindness - World Health Organization (WHO) - October 27th, 2023
- CHOROIDEREMIA RESEARCH FOUNDATION EXPANDS RESEARCH SUPPORT INTO NONSENSE MUTATIONS OF A RARE INHERITED RETINAL - EIN News - May 1st, 2023
- Chennai eye hospital ties up with Iceland firm to adopt mathematical algorithm to predict diabetic retinopathy - The Hindu - April 23rd, 2023
- Drug-Resistant Bacteria Tied to Eyedrops Can Spread Person to Person ... - April 7th, 2023
- Prevention of Blindness Week 2023: Mumbai experts explain why you should be concerned about glaucoma and the need for regular eye checkups -... - April 7th, 2023
- Childhood blindness - Wikipedia - February 24th, 2023
- FDA Approves Syfovre (pegcetacoplan injection) for the Treatment of ... - February 24th, 2023
- Human mini brains illuminate path to curing blindness - February 16th, 2023
- Raymond V. Gilmartin: Man with a global vision - February 16th, 2023
- Why Are People So Mad About MrBeast's Blindness Video? - February 16th, 2023
- This heartwarming video of a colorblind boy seeing color for the first time will make you cry - Indiatimes.com - February 16th, 2023
- Blindness (Vision Impairment): Types, Causes and Treatment - February 8th, 2023
- CDC urges people to stop using brand of artificial tears linked to ... - February 8th, 2023
- Health News Roundup: U.S. FDA says India-made eye drop linked to some infections, blindness and one death; China records 3,278 COVID-related deaths... - February 8th, 2023
- I had two strokes at 29 and gone blind -I've been accused of faking my sight loss - Daily Mail - February 8th, 2023
- Blindness and vision impairment - World Health Organization - January 23rd, 2023
- Recovery from blindness - Wikipedia - January 23rd, 2023
- Colour blindness tests, juggling, avoiding glare: A hockey goalkeepeers quest to train his biggest weapon, eyes - The Indian Express - January 23rd, 2023
- But Did You See the Gorilla? The Problem With Inattentional Blindness ... - October 15th, 2022
- Canadians unaware of diseases that lead to blindness, survey says - CTV News Northern Ontario - October 15th, 2022
- A Review of Corneal Blindness: Causes and Management - Cureus - October 15th, 2022
- A cure for blindness may be first product made in space - Freethink - October 15th, 2022
- Is MrBeast trying to cure 1000 people's blindness? - indy100 - October 15th, 2022
- Early detection and management is the key to prevent glaucoma related blindness: Experts - Express Healthcare - October 15th, 2022
- As World Sight Day Nears, River Blindness is Fading - SaportaReport - October 15th, 2022
- Tears of happiness: How curing blindness in Dolakha saved a girls future - City A.M. - October 15th, 2022
- World Sight Day: Orbis, UC Davis team up to train eye care teams from Latin America to fight avoidable blindness - Ophthalmology Times - October 15th, 2022
- Juan Williams: The GOPs epidemic of intentional blindness - The Hill - October 15th, 2022
- Charles pays tribute to Malawi's elimination of disease causing blindness - Express & Star - October 15th, 2022
- Coping with calamity: Former NYT columnist Frank Bruni on blindness and vision, at Morristown book fest keynote - Morristown Green - October 15th, 2022
- Sighting solutions in a world of vision for weavers - The New Indian Express - October 15th, 2022
- Blindfold run raises $40,000 for the MUHC Foundation to support glaucoma care at the MUHC - StreetInsider.com - October 15th, 2022
- MacKenzie Scott Donates $15M to Address the Eyecare Needs of the Impoverished - InvisionMag - October 15th, 2022
- Astellas and MBC BioLabs Announce Astellas Future Innovator Prize to Help Biotech Start-ups Accelerate Early Drug Discovery and Research Efforts -... - September 20th, 2022
- Treating cataracts before 'critical age' imperative FBC News - FBC News - September 20th, 2022
- GenSight Biologics to Present at Upcoming Industry and Investor Conferences - Business Wire - September 20th, 2022
- Ashton Kutcher battled vasculitis causing blindness, loss of hearing. Know all about the rare condition - India TV News - August 11th, 2022
- Prevent Blindness Is Recognized as a Healthy People 2030 Champion for Supporting the Initiative's Vision - Vision Monday - August 11th, 2022
- Researchers make progress toward a stem cellbased therapy for blindness - Ophthalmology Times - August 11th, 2022
- The strategic blindness of Israel's caretaker government - JNS.org - August 11th, 2022
- UND professor carries the torch for UND studies of visual impairment and blindness - Grand Forks Herald - August 11th, 2022
- Karan Nagrani is using social media to raise awareness about the 'spectrum of blindness' - ABC News - August 11th, 2022
- Vision impairment and blindness related to NCDs: Fong - FBC News - August 11th, 2022
- Strategic blindness of caretaker government - The Jewish Star - August 11th, 2022
- Massachusetts woman blinded by attack working to help others regain sight - WCVB Boston - August 11th, 2022
- Persuasion Film Review: Is Heterogeneous Casting Race-Inclusionary Or Escapist? - Feminism In India - August 11th, 2022
- Is It Time To Start Using Race And Gender To Combat Bias In Lending? - Forbes - August 11th, 2022
- The journey of Kali Yugi started with the mistake of objectives! - Youthistaan - August 11th, 2022
- A 50-State Review of Access to State Medicaid Program Information for People with Limited English Proficiency and/or Disabilities Ahead of the PHE... - August 11th, 2022
- iHealthScreen Completed Prospective Trial of AI-Based Tool for Age-Related Macular Degeneration (AMD) Screening and Submitting the Results to FDA for... - August 11th, 2022
- Vitamin B12: Why You Need It & Foods To Increase Your Vitamin B12 Intake - NDTV - August 11th, 2022
- Jack Levine: Remembering a dad who proved that even in blindness, there can be vision - The Florida Times-Union - June 26th, 2022
- Potion of Blindness | Minecraft Ideas Wiki | Fandom - June 26th, 2022
- Tightening a molecular "zipper" could help prevent hereditary blindness - New Atlas - June 26th, 2022
- What's the Link Between Glaucoma and Dry Eyes? - Healthline - June 26th, 2022
- Lisa Durden's upcoming documentary "Blind Divas" follows Krystle Allen and Naquela Wright-Prevoe, two Black women entrepreneurs, determined... - June 26th, 2022
- Trump election lies may fit legal concept of willful blindness - Chicago Tribune - June 26th, 2022
- Sightsavers relaunches its thematic strategy The Sun Nigeria - Daily Sun - June 26th, 2022
- Trachoma elimination: millions more to benefit from donated azithromycin - World Health Organization - June 26th, 2022
- Dangers of super gonorrhoea from infertility to blindness as global warning issued - Daily Star - June 26th, 2022
- Fifty years of Title IX: What is it, what does it cover and do we still need it? - The Athletic - June 26th, 2022
- How The SMH Got That Rebel Wilson Story So Wrong - Junkee - June 26th, 2022
- The Week That Was: All of Lawfare in One Post - Lawfare - Lawfare - June 26th, 2022
- Why Brad Pitt quit smoking and drinking altogether during the pandemic - BusinessGhana - June 26th, 2022
- Watch your eye - The New Indian Express - June 26th, 2022
- Olivia Brouwer's art is for everyone to see and touch - Hamilton Spectator - June 26th, 2022
- Monkeypox may not mutate as fast as coronaviruses, but that doesn't mean it can't adapt to its new hosts - The Conversation - June 26th, 2022
- Former American Express Foundation President Takes Helm of Signature Theatre - The Chronicle of Philanthropy - June 26th, 2022