Noseless Gene
This scan shows a child who was born without a nose – arhinia. It’s a congenital condition that’s extremely rare: only around 80 cases worldwide have been reported in the last century. And scientists have been at a loss to understand its cause. But now a genetic analysis of 40 arhinia patients and their families has identified a causative mutation carried by 84 percent of affected individuals. Interestingly, the mutation affects a gene previously associated with a far more common condition: facioscapulohumeral muscular dystrophy Type 2 (FSHD2) – so named for its tendency to affect muscles of the face (facio), back (scapulo) and upper arms (humeral). How mutations to the same gene can cause such disparate conditions is, as yet, a mystery, but the findings suggest that arhina patients may be at risk of developing FSHD2, while FSHD2 patients may be at risk of parenting babies with ahrinia.
Written by Ruth Williams
- Image by Natalie Shaw, MD
- Massachusetts General Hospital, Boston, MA, USA; Duke University Medical Center, Durham, NC, USA; MRC Human Genetics Unit, Edinburgh, UK
- Image copyright held by original authors
- Research published in Nature Genetics, January 2017
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