Partial Deletion of LIS1

A Pitfall in Molecular Diagnosis of Miller-Dieker Syndrome

Kosuke Izumi, Gen Kuratsuji, Kazushige Ikeda, Takao Takahashi, Kenjiro Kosaki

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Miller-Dieker syndrome represents a microdeletion syndrome spanning the LIS1 locus at 17p13.3, the deletion of which leads to lissencephaly. A fluorescence in situ hybridization study using an LIS1 probe is considered the standard laboratory diagnostic method for Miller-Dieker syndrome. This report documents a Miller-Dieker syndrome patient who tested normal when a commercially available LIS1 fluorescence in situ hybridization study probe was used but was later demonstrated to have a partial deletion of the LIS1 locus. The present case exemplifies a major shortcoming of commercially available fluorescence in situ hybridization studies for the diagnosis of microdeletion syndromes such as Miller-Dieker syndrome: that is, relatively small deletion can potentially remain undetected.

Original languageEnglish
Pages (from-to)258-260
Number of pages3
JournalPediatric Neurology
Volume36
Issue number4
DOIs
Publication statusPublished - 2007 Apr

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Classical Lissencephalies and Subcortical Band Heterotopias
Fluorescence In Situ Hybridization
Lissencephaly

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Partial Deletion of LIS1 : A Pitfall in Molecular Diagnosis of Miller-Dieker Syndrome. / Izumi, Kosuke; Kuratsuji, Gen; Ikeda, Kazushige; Takahashi, Takao; Kosaki, Kenjiro.

In: Pediatric Neurology, Vol. 36, No. 4, 04.2007, p. 258-260.

Research output: Contribution to journalArticle

Izumi, Kosuke ; Kuratsuji, Gen ; Ikeda, Kazushige ; Takahashi, Takao ; Kosaki, Kenjiro. / Partial Deletion of LIS1 : A Pitfall in Molecular Diagnosis of Miller-Dieker Syndrome. In: Pediatric Neurology. 2007 ; Vol. 36, No. 4. pp. 258-260.
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