Novel TRPV4 variant causes a severe form of metatropic dysplasia

被引：6

作者：

Graversen, Lise ^{[1
,2
]}

Haagerup, Annette ^{[3
,4
]}

Andersen, Brian N. ^{[1
]}

Petersen, Karin K. ^{[5
]}

Gjorup, Vibike ^{[6
]}

Gudmundsdottir, Gudrun ^{[7
]}

Vogel, Ida ^{[2
]}

Gregersen, Pernille A. ^{[1
,2
]}

机构：

[1] Aarhus Univ Hosp, Ctr Rare Dis, Pediat & Adolescent Med, Aarhus, Denmark

[2] Aarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark

[3] West Danish Hosp, NIDO Danmark, Herning, Denmark

[4] Aarhus Univ, Inst Clin Med, Aarhus, Denmark

[5] Aarhus Univ Hosp, Dept Radiol, Aarhus, Denmark

[6] Aarhus Univ Hosp, Dept Gynaecol & Obstet, Aarhus, Denmark

[7] Aarhus Univ Hosp, Dept Neurosurg, Aarhus, Denmark

来源：

CLINICAL CASE REPORTS | 2018年 / 6卷 / 09期

关键词：

genetic diseases; metatropic dysplasia; rare diseases; TRPV4;

D O I：

10.1002/ccr3.1598

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Key Clinical Message We present a girl born with a frontal bossing, short neck, bell-shaped thorax, short limbs with prominent joints, and a tail-like coccygeal appendage. Genetic screening of TRPV4 identified a novel de novo heterozygous missense variant. We believe the variant causes the severe form of metatropic dysplasia in this patient.

引用

页码：1774 / 1778

页数：5

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