一个患有6号染色体短臂三体综合征的意大利家族中的E型短指畸形。

Brachydactyly type E in an Italian family with 6p25 trisomy.

作者信息

Fontana Paolo, Tortora Cristina, Petillo Roberta, Malacarne Michela, Cavani Simona, Miniero Martina, D'Ambrosio Paola, De Brasi Davide, Pisanti Maria Antonietta

机构信息

Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy.

出版信息

Eur J Med Genet. 2017 Mar;60(3):195-199. doi: 10.1016/j.ejmg.2017.01.006. Epub 2017 Jan 19.

DOI:10.1016/j.ejmg.2017.01.006

PMID:28111183

Abstract

Brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Genetic causes of this anomaly are heterogeneous and only partially characterized. In this report we describe an Italian family in which four subjects share brachydactyly type E and a 3 Mb microduplication in region 6p25. The duplication involves the gene FOXC1, expressed during the osteoblast differentiation, which appears a potential candidate gene for brachydactyly.

摘要

E型短指畸形是一种先天性肢体畸形，其特征是由于掌骨和跖骨缩短导致手脚短小。这种异常的遗传原因是异质性的，且仅部分得到表征。在本报告中，我们描述了一个意大利家庭，其中四名成员患有E型短指畸形，并且在6p25区域存在一个3 Mb的微重复。该重复涉及成骨细胞分化过程中表达的FOXC1基因，该基因似乎是短指畸形的一个潜在候选基因。