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

TY - JOUR

T1 - 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

AU - Becker, Kerstin

AU - Di Donato, Nataliya

AU - Holder-Espinasse, Muriel

AU - Andrieux, Joris

AU - Cuisset, Jean-Marie

AU - Vallée, Louis

AU - Plessis, Ghislaine

AU - Jean, Nolwenn

AU - Delobel, Bruno

AU - Thuresson, Ann-Charlotte

AU - Annerén, Göran

AU - Ravn, Kirstine

AU - Tümer, Zeynep

AU - Tinschert, Sigrid

AU - Schrock, Evelin

AU - Jønch, Aia Elise

AU - Hackmann, Karl

N1 - Copyright © 2012 Elsevier Masson SAS. All rights reserved.

PY - 2012/8

Y1 - 2012/8

N2 - 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.

AB - 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.

U2 - 10.1016/j.ejmg.2012.03.003

DO - 10.1016/j.ejmg.2012.03.003

M3 - Journal article

C2 - 22561202

SN - 1769-7212

VL - 55

SP - 490

EP - 497

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 8-9

ER -