Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia

James M. Fink, William B. Dobyns, Renzo Guerrini, Betsy A. Hirsch

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Bilateral periventricular nodular heterotopia (BPNH) is a malformation of neuronal migration and is characterized by nodules of heterotopic gray matter lining the lateral ventricles of the brain. The majority of BPNH patients are female and have epilepsy as a sole clinical manifestation of their disease. Familial BPNH has been mapped to Xq28 by linkage analysis. A multiple congenital anomaly-mental retardation syndrome (BPNH/MR) was recently delineated in three unrelated boys with BPNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and syndactyly. High-resolution chromosome analysis revealed a subtle abnormality of Xq28 in one of the boys with BPNH/MR syndrome. FISH with cosmids and YACs from Xq28 further characterized this abnormality as a 2.25-3.25-Mb inverted duplication. No abnormality of Xq28 was detected by G-banding or FISH in the other two boys. These data support the linkage assignment of BPNH to band Xq28 and narrow the critical region to the distal 2.25-3.25 Mb of Xq28.

Original languageEnglish (US)
Pages (from-to)379-387
Number of pages9
JournalAmerican Journal of Human Genetics
Issue number2
StatePublished - Aug 1997

Bibliographical note

Funding Information:
We gratefully acknowledge Dr. Mary Ella Pierpont for referring patient BPNH-02 for analysis. We also acknowledge Drs. Julia Parrish and David Nelson for providing us with cosmid clones in Xq28, from the LLOXNCO1 library, and we acknowledge Drs. Anand Srivastava and David Schlessinger for providing us with YAC clones in Xq28. The chromosome-specific library LLOXNCO1 used in this work was constructed at the Biomedical Sciences Division, Lawrence Livermore National Laboratory, Livermore, CA, under the auspices of the National Laboratory Gene Library Project sponsored by the U.S. Department of Energy. We also acknowledge Dr. David Nelson for molecular analyses of FRAXA and FRAXE and acknowledge Dr. Mike Koob for technical assistance with the agarose microbead technique. This work was supported by Minnesota Medical Foundation grants FPK-13-96 and LNF-9-96.


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