Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles.
We herein report a de novo hemizygous 9.2-Mb interstitial deletion of chromosome 11p14.1-15.3 in a 3-year-old Japanese girl with short stature, relative macrocephaly, and delayed closure of cranial fontanelles and sutures. She did not show either any motor or mental development delay. This deletion involves 25 genes including NELL1. The loss of the Nell1 function leads to skeletal defects in the cranial vault and vertebral column, and overexpression of Nell1 causes craniosynostosis in mice. These results imply that short stature and an abnormality of membranous ossification could be explained by haploinsufficiency of NELL1 on 11p14.1-p15.3. Further studies are needed to clarify the phenotype in patients with an 11p14.1-15.3 deletion and the pathogenesis of NELL1. © 2016 Wiley Periodicals, Inc.
Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan.
Sumito
S
Dateki
Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan.|Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Satoshi
S
Watanabe
Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan.
Fumiko
F
Kinoshita
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Koh-Ichiro
KI
Yoshiura
Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan.
Hiroyuki
H
Moriuchi
D002135:Calcium-Binding Proteins; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D002884:Chromosomes, Human, Pair 15; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D058627:Megalencephaly / Q000175:diagnosis / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D012886:Skull / Q000473:pathology*; D036542:Tomography, Spiral Computed
D002135:Calcium-Binding Proteins; C104144:NELL1 protein, human; D009419:Nerve Tissue Proteins
11p deletion; NELL1; macrocephaly; short stature