LTBP3 相关骨骼发育不良中双等位基因功能丧失的新型变异：来自印度的首例患者报告。

Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India.

机构信息

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Department of Pedodontics and Preventive Dentistry, Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Am J Med Genet A. 2020 Aug;182(8):1944-1946. doi: 10.1002/ajmg.a.61629. Epub 2020 May 20.

DOI:10.1002/ajmg.a.61629

Abstract

Dental anomalies and short stature (DASS) has been recently identified as a distinct entity, associated with bi-allelic hypomorphic variants in LTBP3 gene. Only 20 individuals from nine families have been previously reported, with a consistent phenotype of short stature, brachyolmia, and amelogenesis imperfecta. We report the first case from India, with novel radiographic and molecular findings in LTBP3 gene, thereby expanding the phenotypic spectrum of DASS.

摘要

牙齿异常和身材矮小（DASS）最近被确定为一种独特的疾病实体，与 LTBP3 基因的双等位基因功能降低变异相关。此前已报道了来自九个家庭的 20 名个体，其表型一致，表现为身材矮小、短肢畸形和牙釉质发育不全。我们报告了印度的首例病例，在 LTBP3 基因中发现了新的放射学和分子学发现，从而扩展了 DASS 的表型谱。

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