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Chudley-McCullough Syndrome.

Meltem Özdemir1, Alper Dilli1

  • 1Department of Radiology, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.

Journal of Clinical Imaging Science
|December 15, 2018
PubMed
Summary
This summary is machine-generated.

Chudley-McCullough syndrome (CMS) is a rare genetic disorder causing profound hearing loss and brain abnormalities. Inactivating mutations in G protein signaling modulator 2 cause this condition.

Keywords:
Cerebellar dysplasiaChudley-McCullough syndromecorpus callosum hypogenesissensorineural hearing loss

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Area of Science:

  • Genetics
  • Neurology
  • Ophthalmology

Background:

  • Chudley-McCullough syndrome (CMS) is an autosomal recessive disorder.
  • It is characterized by profound sensorineural hearing loss and specific brain abnormalities.
  • The condition was first reported in 1997.

Observation:

  • Individuals with CMS exhibit striking brain malformations.
  • Despite brain abnormalities, significant neurodevelopmental delays are not observed.
  • Hearing loss can be congenital or manifest early in life.

Findings:

  • Inactivating mutations in G protein signaling modulator 2 (GPSM2) have been identified as the cause of CMS.
  • This genetic finding clarifies the molecular basis of the syndrome.
  • A case presentation of a 36-year-old male with characteristic CMS findings is included.

Implications:

  • Understanding the genetic cause of CMS aids in diagnosis and genetic counseling.
  • Further research into GPSM2 function may reveal therapeutic targets.
  • This case highlights the distinct neurodevelopmental profile despite significant brain malformations in CMS.