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A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome.

Abstract
We report a 26-month-old girl with profound hearing impairment, microcephaly, psychomotor retardation, short palpebral fissures, hypertelorism, epicanthic folds, a broad nasal bridge, anteverted nostrils, large low-set ears, micrognathia, brachymesophalangy of the second and the fifth fingers, clinodactyly of bilateral fifth fingers and a wide interdigital space between the first and the second toes, carrying a 4.4-Mb de novo microdeletion of chromosome 2p24.3 → p24.2. This region contains the genes of FAM84A, NBAS, DDX1, MYCNOS and MYCN, of which haploinsufficiency or mutations of the MYCN gene is associated with Feingold syndrome. Brain magnetic resonance imaging revealed cochlear nerve hypoplasia and internal auditory canal stenosis. Temporal bone computed tomography showed abnormal dilation of bilateral vestibular and lateral semicircular canals. The present case provides evidence that haploinsufficiency of MYCN in 2p24.3 deletion in humans can cause structural and functional abnormalities of the inner ear.
AuthorsChih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Shuenn-Dyh Chang, Shu-Hang Ng, Yu-Peng Liu, Jun-Wei Su, Wayseen Wang
JournalEuropean journal of medical genetics (Eur J Med Genet) Vol. 55 Issue 11 Pg. 666-9 (Nov 2012) ISSN: 1878-0849 [Electronic] Netherlands
PMID22842076 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2012 Elsevier Masson SAS. All rights reserved.
Chemical References
  • MYCN protein, human
  • N-Myc Proto-Oncogene Protein
  • Nuclear Proteins
  • Oncogene Proteins
Topics
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 2 (genetics)
  • Eyelids (abnormalities)
  • Female
  • Genetic Loci
  • Haploinsufficiency
  • Hearing Loss, Bilateral (diagnosis, genetics)
  • Humans
  • Intellectual Disability (diagnosis, genetics)
  • Limb Deformities, Congenital (diagnosis, genetics)
  • Magnetic Resonance Imaging
  • Microcephaly (diagnosis, genetics)
  • N-Myc Proto-Oncogene Protein
  • Nuclear Proteins (genetics)
  • Oncogene Proteins (genetics)
  • Tracheoesophageal Fistula (diagnosis, genetics)

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