Open AccessIdentification and Functional Characterization of Two Novel NPR2 Mutations in Japanese Patients With Short Stature
Author(s) -
Naoko Amano,
Tokuo Mukai,
Yoshiya Ito,
Satoshi Narumi,
Toshiaki Tanaka,
Susumu Yokoya,
Tsutomu Ogata,
Tomonobu Hasegawa
Publication year - 2014
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2013-3525
Subject(s) - npr2 , short stature , natriuretic peptide , idiopathic short stature , mutation , biology , endocrinology , endochondral ossification , genetics , medicine , phenotype , hormone , gene , cartilage , anatomy , heart failure , growth hormone
C-type natriuretic peptide-natriuretic peptide receptor B (NPR-B) signaling is critical for endochondral ossification, which is responsible for longitudinal growth in limbs and vertebrae. Biallelic NPR2 mutations cause acromesomelic dysplasia, type Maroteaux, which is bone dysplasia characterized by severe short stature and short limbs. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth.
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