Premium
Clinical and molecular characterization of a second case of 7p22.1 microduplication
Author(s) -
Preiksaitiene Egle,
Kasnauskiene Jurate,
Ciuladaite Zivile,
Tumiene Birute,
Patsalis Philippos C.,
Kučinskas Vaidutis
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35300
Subject(s) - macrocephaly , hypertelorism , gene duplication , craniofacial , intellectual disability , megalencephaly , refseq , genetics , medicine , gene , computational biology , bioinformatics , biology , genome
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, 1.7 Mb 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, 1 Mb 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. © 2012 Wiley Periodicals, Inc.