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Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery

Sebastiano Aleo1, Claudia Cinnante2, Sabrina Avignone2

  • 1Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Frontiers in Cell and Developmental Biology
|August 28, 2020
PubMed

Insights

Olfactory malformations, affecting over 30% of patients with Mendelian Disorders of the Epigenetic Machinery (MDEM), may serve as a new diagnostic marker. This study links epigenetic machinery to olfactory bulb development.

Area of Science:

  • Neuroscience
  • Genetics
  • Medical Imaging

Background:

  • Olfactory abnormalities are often overlooked but are increasingly recognized in genetic disorders.
  • Mendelian Disorders of the Epigenetic Machinery (MDEM) represent an emerging group of genetic conditions.
  • Olfactory malformations have been recently identified in specific MDEM cases.

Purpose of the Study:

  • To determine the prevalence of olfactory malformations in a diverse cohort of patients with MDEM.
  • To investigate the association between MDEM and olfactory bulb development.
  • To identify potential new diagnostic markers for MDEM.

Main Methods:

  • Retrospective review of clinical data from 35 patients diagnosed with MDEM.
  • Analysis of high-resolution brain MRI scans by two experienced neuroradiologists.
  • Classification and documentation of olfactory malformations, focusing on olfactory bulbs.

Main Results:

  • Olfactory defects were identified in 11 out of 35 patients (31.4%).
  • The majority of olfactory malformations involved the olfactory bulbs and were bilateral.
  • Specific syndromes within MDEM, including Rubinstein-Taybi syndrome, CHARGE syndrome, Kleefstra syndrome, and Weaver syndrome, showed varying rates of olfactory defects.

Conclusions:

  • Olfactory malformations are a significant finding in patients with MDEM, occurring in over 30% of the studied sample.
  • These malformations, particularly involving the olfactory bulbs, suggest a potential role for epigenetic machinery in olfactory development.
  • The findings propose olfactory malformations as a possible novel diagnostic marker for MDEM.
Keywords:
epigeneticsmendelian disorders of the epigenetic machinerynervous system diseases/geneticsneuroimagingolfactory bulbrare diseases

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