Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome

American Journal of Medical Genetics. Part a
Jennifer N SanmannWarren G Sanger

Abstract

Males with duplication of the Xq28 region, including methyl CpG-binding protein 2 (MECP2), exhibit a characteristic phenotype, including developmental delay, intellectual disability, limited or absent speech, limited or absent ambulation, and recurrent respiratory infections. We report six males with MECP2 duplications identified using array comparative genomic hybridization. The minimal sizes of these duplications range from ∼0.08 to 14.13 Mb, which, to the best of our knowledge, are respectively the smallest and largest minimal size duplications molecularly characterized to date. Adjunct metaphase fluorescence in situ hybridization analysis further classified these duplications as tandem or as products of complex chromosomal rearrangements. Specifically, one complex rearrangement was described as a der(12)t(X;12)(q28;q24.33), which is the first report of a translocation involving MECP2 on Xq and chromosome 12. The other complex rearrangement was described as a rec(X)dup(Xq)inv(X)(p22.32q28)mat. Synthesis of the dysmorphic features identified in individuals with rec(X) chromosomes, including deletions in the pseudoautosomal region 1 (PAR1) at Xp22.33/Yp11.3 and duplications of the distal Xq region including MECP2, revealed a h...Continue Reading

References

Mar 10, 2001·American Journal of Medical Genetics·M AkiyamaY Eto
Apr 20, 2001·Clinical Dysmorphology·E J LammerP D Cotter
Aug 17, 2004·European Journal of Pediatrics·Nadja Kokalj-VokacAlojz Gregoric
Sep 1, 2004·Human Genetics·Katherine L LachlanN Simon Thomas
Mar 3, 2005·European Journal of Human Genetics : EJHG·Damien SanlavilleCatherine Turleau
Dec 19, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Daniela del GaudioBenjamin B Roa
Jan 1, 2008·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·M SmykE Bocian
May 23, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Erin L BaldwinChrista L Martin
Feb 24, 2009·Orphanet Journal of Rare Diseases·Damien SanlavilleCatherine Turleau
Feb 12, 2011·Pediatric Neurology·Aleksandra Jezela-StanekMałgorzata Krajewska-Walasek

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Citations

Dec 18, 2015·BMC Medical Genetics·Qingping ZhangXinhua Bao
May 25, 2013·American Journal of Medical Genetics. Part a·Shino ShimadaToshiyuki Yamamoto
Feb 28, 2015·Journal of Clinical Immunology·Michael BauerHorst von Bernuth
Sep 21, 2016·Hormone Research in Pædiatrics·Atsumi Tsuji-HosokawaTomohiro Morio

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