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Identification of 11p14.1‐p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles
Author(s) -
Dateki Sumito,
Watanabe Satoshi,
Kinoshita Fumiko,
Yoshiura Kohichiro,
Moriuchi Hiroyuki
Publication year - 2017
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.37978
Subject(s) - haploinsufficiency , macrocephaly , short stature , cranial vault , craniosynostosis , medicine , skull , phenotype , genetics , anatomy , biology , pathology , gene , endocrinology
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.