AsianScientist (Jan. 18, 2017) – Scientists in Singapore have discovered the genetic basis of arhinia, a rare genetic condition where babies are born without a nose. Their findings, published in Nature Genetics, shed light on how the nose is formed during development and how variation in nose shape and size evolves.
The absence of a nose has a significant impact on a child’s early life, as babies naturally breathe through their noses when breastfeeding. Children with arhinia may also have eye defects and will never experience the sense of smell, a condition known as anosmia. Some individuals also have reproductive defects which first manifest as delayed puberty.
Thankfully, arhinia is rare, with less than 50 cases reported worldwide. Studying 14 unrelated cases, a team of researchers led by Professor Bruno Reversade at the Agency for Science, Technology and Research’s (A*STAR) Institute of Medical Biology (IMB) identified SMCHD1, a gene mutated in all 14 patients.
SMCHD1 is an epigenetic regulator, an important factor that switches on or off important genes depending on the cellular context. Prior to this study, the gene has never been associated with craniofacial development in humans but has previously been associated with a completely unrelated muscular disorder, facioscapulohumeral muscular dystrophy type 2 (FSHD).
A better understanding of SMCHD1 will provide valuable insights for the development of novel therapy for this FSHD, an adult onset muscle-weakening disorder affects the face (facio), shoulders (scapula) and upper arms (humeral), and can spread to other parts of the body over time.
“This discovery is a fascinating example of how rare conditions can provide unsuspected insights into common diseases. We will strive to translate these findings into potential therapeutics for FSHD,” said Reversade, Research Director at IMB.
The article can be found at: Gordon et al. (2017) De Novo Mutations in SMCHD1 Abrogate Nasal Development.
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