Title: Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
Authors: Froyen, Guido ×
Bauters, Marijke
Boyle, Jackie
Van Esch, Hilde
Govaerts, Karen
van Bokhoven, Hans
Ropers, Hans-Hilger
Moraine, Claude
Chelly, Jamel
Fryns, Jean-Pierre
Marynen, Peter
Gecz, Jozef
Turner, Gillian #
Issue Date: Jun-2007
Publisher: Springer-Verlag
Series Title: Human Genetics vol:121 issue:5 pages:539-547
Abstract: Using high resolution X chromosome array-CGH we identified an interstitial microdeletion at Xp11.23 in three brothers with moderate to severe mental retardation (MR) without dysmorphic features. The extent of the deletion was subsequently delineated to about 50 kb by regular PCR and included only the SLC38A5 and FTSJ1 genes. The loss of the FTSJ1 MR gene in males is expected to result in the observed phenotype but the contribution of the deletion of the solute carrier SLC38A5 gene is less clear. Their mother also carries the deletion and completely inactivates the aberrant X chromosome. Interestingly, the distal breakpoint is situated within a 200 kb SSX repeat region that appears to stimulate recombination since subtle copy number changes often occur at this location and it is frequently involved in translocations in tumours. Since this apparent SSX unstable structure is flanked proximally by FTSJ1 and PQBP1, subtle deletions or duplications at this location would be expected to cause MR, as in our family. So far, we have screened a cohort of 300 patients but did not find additional aberrations at the FTSJ1 locus indicating that the frequency is likely to be low.
ISSN: 0340-6717
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular Genetics Section (-)
Department of Human Genetics - miscellaneous
Clinical Genetics Section (-)
Human Genome Laboratory
× corresponding author
# (joint) last author

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