TY - JOUR
T1 - Clinical and molecular characterization of a second case of 7p22.1 microduplication
AU - Preiksaitiene, Egle
AU - Kasnauskiene, Jurate
AU - Ciuladaite, Zivile
AU - Tumiene, Birute
AU - Patsalis, Philippos C.
AU - Kučinskas, Vaidutis
PY - 2012/5
Y1 - 2012/5
N2 - The use of high-resolution microarray technology for investigation of patients with intellectual disability and/or congenital anomalies provided the unique possibility to identify new microdeletion/microduplication syndromes and discover the dosage sensitive genes, which are implicated in the manifestation of various genetic conditions. Microduplication of the 7p22.1 region, 1.7Mb in size, has very recently been reported, representing the smallest interstitional 7p duplication, associated with specific facial features and speech delay. We report on a patient with an even smaller 7p22.1 de novo microduplication, 1Mb in size, detected in a 14.5-year-old patient with mild intellectual disability and similar facial dysmorphism, including macrocephaly, ocular hypertelorism, low-set ears, and other features. There are 15 RefSeq genes included in this duplication. ACTB gene is a strong candidate gene for the alteration of craniofacial development. Further cases with similar duplications will contribute to the delineation of a potential new microduplication syndrome of 7p22.1.
AB - The use of high-resolution microarray technology for investigation of patients with intellectual disability and/or congenital anomalies provided the unique possibility to identify new microdeletion/microduplication syndromes and discover the dosage sensitive genes, which are implicated in the manifestation of various genetic conditions. Microduplication of the 7p22.1 region, 1.7Mb in size, has very recently been reported, representing the smallest interstitional 7p duplication, associated with specific facial features and speech delay. We report on a patient with an even smaller 7p22.1 de novo microduplication, 1Mb in size, detected in a 14.5-year-old patient with mild intellectual disability and similar facial dysmorphism, including macrocephaly, ocular hypertelorism, low-set ears, and other features. There are 15 RefSeq genes included in this duplication. ACTB gene is a strong candidate gene for the alteration of craniofacial development. Further cases with similar duplications will contribute to the delineation of a potential new microduplication syndrome of 7p22.1.
KW - β-actin
KW - 7p22.1 microduplication syndrome
KW - ACTB gene
KW - Craniofacial abnormalities
KW - Developmental delay
KW - Skeletal abnormalities
UR - https://www.scopus.com/pages/publications/84859941770
U2 - 10.1002/ajmg.a.35300
DO - 10.1002/ajmg.a.35300
M3 - Article
C2 - 22495914
AN - SCOPUS:84859941770
SN - 1552-4825
VL - 158 A
SP - 1200
EP - 1203
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 5
ER -