TY - JOUR
T1 - Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris
AU - Al-Maawali, Almundher
AU - Marshall, Christian R.
AU - Scherer, Stephen W.
AU - Dupuis, Lucie
AU - Mendoza-Londono, Roberto
AU - Stavropoulos, Dimitri J.
PY - 2014/3
Y1 - 2014/3
N2 - We report on a male patient with a submicroscopic 1.21Mb de novo deletion at 12q21.33-q22 with global developmental delay, characteristic facial features, and keratosis pilaris. Thus far, five other cases with a 12q de novo deletion including this segment have been reported; our case represents the smallest de novo deletion within this chromosome region. High resolution SNP microarray analysis showed a deletion of RefSeq genes BTG1 and LOC256021, and partial deletion of DCN. We propose that BTG1 is a critical gene for the development of the distinctive keratosis pilaris observed in patients with interstitial deletion of 12q21-q22, and suggest candidate genes that may contribute to dysmorphic features and global developmental delay.
AB - We report on a male patient with a submicroscopic 1.21Mb de novo deletion at 12q21.33-q22 with global developmental delay, characteristic facial features, and keratosis pilaris. Thus far, five other cases with a 12q de novo deletion including this segment have been reported; our case represents the smallest de novo deletion within this chromosome region. High resolution SNP microarray analysis showed a deletion of RefSeq genes BTG1 and LOC256021, and partial deletion of DCN. We propose that BTG1 is a critical gene for the development of the distinctive keratosis pilaris observed in patients with interstitial deletion of 12q21-q22, and suggest candidate genes that may contribute to dysmorphic features and global developmental delay.
KW - 12q deletion
KW - CGH-array
KW - Facial dysmorphism, keratosis pilaris
KW - Intellectual disability
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U2 - 10.1002/ajmg.a.36356
DO - 10.1002/ajmg.a.36356
M3 - Article
C2 - 24375972
AN - SCOPUS:84894288714
SN - 1552-4825
VL - 164
SP - 796
EP - 800
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -