Premium
Acromesomelic dysplasia Maroteaux‐type in patients from Vietnam
Author(s) -
Tran Thinh Huy,
Cao My Ha,
Luong Long Hoang,
Le Phuong Thi,
Vu Dung Chi,
Ta Thanh Dat,
Bui TheHung,
Nguyen Duc Hinh,
Van Ta Thanh,
Tran Van Khanh
Publication year - 2019
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.61192
Subject(s) - dysplasia , short stature , npr2 , natriuretic peptide , genetics , compound heterozygosity , medicine , south asia , family studies , biology , gene , phenotype , heart failure , history , ethnology
Acromesomelic dysplasias are rare skeletal disorders leading to severe short stature and abnormal skeletal morphology. Acromesomelic dysplasia Maroteaux‐type is caused by homozygous or compound heterozygous pathogenic variants in NPR2 that encodes for natriuretic peptide receptor B. Here, we reported the first AMDM case in South East Asia and identified a novel pathogenic variant in NPR2 (c. 152T>C, p. (Leu51Pro)). Further analyses reveal the parents and two other family members were heterozygous for the variant. The clinical report highlights the importance of molecular genetic testing in diagnosing rare hereditable disease affecting skeletal abnormalities.