Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles
| Autor: | Satoshi Watanabe, Koh-ichiro Yoshiura, Hiroyuki Moriuchi, Fumiko Kinoshita, Sumito Dateki |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Developmental Disabilities Dwarfism Nerve Tissue Proteins 030105 genetics & heredity Biology Polymorphism Single Nucleotide Short stature Cranial Fontanelles Craniosynostosis 03 medical and health sciences Internal medicine Cranial vault Genetics medicine Humans Megalencephaly Genetic Association Studies Genetics (clinical) Oligonucleotide Array Sequence Analysis Chromosomes Human Pair 15 Chromosomes Human Pair 11 Calcium-Binding Proteins Skull Macrocephaly Anatomy medicine.disease Chromosome Banding 030104 developmental biology Endocrinology medicine.anatomical_structure Child Preschool Female Chromosome Deletion medicine.symptom Haploinsufficiency Tomography Spiral Computed |
| Zdroj: | American Journal of Medical Genetics Part A. 173:217-220 |
| ISSN: | 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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