高血压和短指综合征:再一例报告。

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2022-10-01 DOI:10.1097/MCD.0000000000000424

Xiang Huang, Xiao-Lan Li, Fu-Yuan Liu, Hao Li, Heng Zhou, Xiao-Mei Li

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Hypertension and brachydactyly syndrome: a further case report.

Introduction Hypertension and brachydactyly syndrome (HTNB) is characterized by brachydactyly type E (BDE) with autosomal dominant inherited, age-dependent and sodium-insensitive hypertension from an early age. Based on the present research findings, the PDE3A gene is responsible for HTNB, which is located at 12p12.2-p11.2 and is abundantly expressed in platelet, heart and vascular smooth muscle. PDE3A encodes phosphodiesterase 3A which hydrolyzes cyclic GMP (cGMP) and cyclic AMP (cAMP). Laboratory experiments suggested that PDE3A variants in HTNB-affected individuals are gain-of-function variants as they increase protein kinase A (PKA)mediated phosphorylation of phosphodiesterase 3A which leads to hyperactivation of phosphodiesterase 3A (Ercu et al., 2020). In this study, we identified a missense variant (c.1340C>T) in PDE3A of a Chinese family with HTNB and emphasized clinical features and diagnostic evaluation of this rare disease.

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来源期刊

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.