De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature

European Journal of Medical Genetics
Kerstin BeckerKarl Hackmann

Abstract

Interstitial 6q deletions can cause a variable phenotype depending on the size and location of the deletion. 6q14 deletions have been associated with intellectual disability and a distinct pattern of minor anomalies, including upslanted palpebral fissures with epicanthal folds, a short nose with broad nasal tip, anteverted nares, long philtrum, and thin upper lip. In this study we describe two patients with overlapping 6q14 deletions presenting with developmental delay and characteristic dysmorphism. Molecular karyotyping using array CGH analysis revealed a de novo 8.9 Mb deletion at 6q14.1-q14.3 and a de novo 11.3 Mb deletion at 6q12.1-6q14.1, respectively. We provide a review of the clinical features of twelve other patients with 6q14 deletions detected by array CGH analysis. By assessing all reported data we could not identify a single common region of deletion. Possible candidate genes in 6q14 for intellectual disability might be FILIP1, MYO6, HTR1B, and SNX14.

References

Aug 14, 2001·Developmental Dynamics : an Official Publication of the American Association of Anatomists·P CarrollS Alonso
Dec 4, 2002·Nature Reviews. Molecular Cell Biology·Carolyn A Worby, Jack E Dixon
Jul 5, 2006·Nature Neuroscience·Hiroko YanoMoses V Chao
Sep 30, 2008·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Jessica Lasky-SuStephen V Faraone
Nov 11, 2008·European Journal of Medical Genetics·James LespinasseAriane Paoloni-Giacobino

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Citations

Mar 19, 2014·European Journal of Medical Genetics·Christian WentzelAnn-Charlotte Thuresson
Sep 25, 2014·Birth Defects Research. Part A, Clinical and Molecular Teratology·Gabriel C DworschakHeiko Reutter
Jun 27, 2018·Journal of Cutaneous Pathology·Huamin QinJonathan Cuda
Aug 12, 2016·American Journal of Medical Genetics. Part a·Helga V TorielloMichael Bamshad
Sep 6, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Tommy HuMaximilian Muenke
Jun 16, 2018·European Journal of Human Genetics : EJHG·Aafke EngwerdaConny M A van Ravenswaaij-Arts

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