Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6 megabases (Mb) in size with a 3.44 Mb common deleted region. The deleted interval was not flanked by low-copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities.
Menten
Björn
B
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Buysse
Karen
K
Zahir
Farah
F
Hellemans
Jan
J
Hamilton
Sara J
SJ
Costa
Teresa
T
Fagerstrom
Carrie
C
Anadiotis
George
G
Kingsbury
Daniel
D
McGillivray
Barbara C
BC
Marra
Marco A
MA
Friedman
Jan M
JM
Speleman
Frank
F
Mortier
Geert
G
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics / Q000502:physiology; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D022202:Chromosomes, Artificial, Bacterial; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics* / Q000648:ultrastructure; D004268:DNA-Binding Proteins; D004392:Dwarfism / Q000235:genetics*; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D025743:HMGA2 Protein / Q000235:genetics / Q000502:physiology; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007859:Learning Disabilities / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000502:physiology; D009687:Nuclear Proteins / Q000172:deficiency / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D010023:Osteopoikilosis / Q000235:genetics*; D010641:Phenotype; D012600:Scoliosis / Q000235:genetics; D017384:Sequence Deletion; D013577:Syndrome
D002352:Carrier Proteins; D004268:DNA-Binding Proteins; C491310:GRIP1 protein, human; D025743:HMGA2 Protein; C405329:LEMD3 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins