title: 12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.
abstract: The 12q14 microdeletion syndrome is a rare condition that has previously been characterized by pre- and postnatal growth restriction, proportionate short stature, failure to thrive, developmental delay, and osteopoikilosis. Previously reported microdeletions within this region have ranged in size from 1.83 to 10.12 Mb with a proposed 2.61 Mb smallest region of overlap containing the LEMD3, HMGA2, and GRIP1 genes. Here, we report on the identification of a 12q14 microdeletion in a female child presenting with proportionate short stature, failure to thrive, and speech delay. The genomic loss (minimum size 4.17 Mb, maximum size 4.21 Mb) contained 25 RefSeq genes including IRAK3, GRIP1, and the 3' portion of the HMGA2 gene. This is the first partial deletion of HMGA2 associated with the 12q14 microdeletion syndrome. This case further clarifies the association of LEMD3 deletions with the 12q14 microdeletion syndrome and provides additional support for the role of the HMGA2 gene in human growth.
authors.affiliation: Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.
authors.forename: Fadel
authors.initials: F
authors.lastname: Alyaqoub
authors.forename: Robert E
authors.initials: RE
authors.lastname: Pyatt
authors.forename: Andrea
authors.initials: A
authors.lastname: Bailes
authors.forename: Amanda
authors.initials: A
authors.lastname: Brock
authors.forename: Carol
authors.initials: C
authors.lastname: Deeg
authors.forename: Aimee
authors.initials: A
authors.lastname: McKinney
authors.forename: Caroline
authors.initials: C
authors.lastname: Astbury
authors.forename: Shalini
authors.initials: S
authors.lastname: Reshmi
authors.forename: Kate P
authors.initials: KP
authors.lastname: Shane
authors.forename: Devon Lamb
authors.initials: DL
authors.lastname: Thrush
authors.forename: Annemarie
authors.initials: A
authors.lastname: Sommer
authors.forename: Julie M
authors.initials: JM
authors.lastname: Gastier-Foster
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D055028:Comparative Genomic Hybridization; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D025743:HMGA2 Protein / Q000235:genetics*; D006801:Humans; D013577:Syndrome
chemical_list: D025743:HMGA2 Protein