Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: Two cases and expansion of the phenotype to radial agenesis

被引：12
|
作者：
Petit, Florence [1 ,2 ]
Andrieux, Joris [3 ]
Demeer, Benedicte [4 ]
Collet, Louis-Michel [5 ]
Copin, Henri [6 ,7 ,9 ]
Boudry-Labis, Elise [3 ]
Escande, Fabienne [8 ]
Manouvrier-Hanu, Sylvie [1 ,2 ]
Mathieu-Dramard, Michele [4 ,9 ]
机构：
[1] CHRU, Hop Jeanne Flandre, Serv Genet Clin, F-59037 Lille, France
[2] Univ Lille Nord France, Lille, France
[3] CHRU, Hop Jeanne Flandre, Med Genet Lab, F-59037 Lille, France
[4] CHU, Hop Nord, Serv Genet Clin, Amiens, France
[5] CHU, Hop Nord, Serv Chirurg Orthoped Pediat, Amiens, France
[6] CHU, Hop Nord, Serv Med & Biol Reprod & Cytogenet, Amiens, France
[7] Univ Picardie Jules Verne, Amiens, France
[8] CHRU, Ctr Biol Pathol, Lab Biochim & Biol Mol, F-59037 Lille, France
[9] CHU, Hop Nord, Serv Gynecol Obstet, Ctr Multidisciplinaire Diagnost Prenatal, Amiens, France
来源：
EUROPEAN JOURNAL OF MEDICAL GENETICS | 2013年 / 56卷 / 02期
关键词：
BHLHA9; Ectrodactyly; SHFLD; SHFM; 17p13.3; duplication; BILATERAL TIBIAL APLASIA; FOOT MALFORMATION; CLINICAL DELINEATION; HAND; HEMIMELIA; 17P13.3; LOCUS; SHFLD; MICRODUPLICATIONS; FAMILY;
D O I：
10.1016/j.ejmg.2012.11.002
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Split-hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM# 119100) is a rare condition characterised by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, BHLHA9 has been proposed to be the major candidate gene responsible for this limb malformation. Here we report two new patients affected with ectrodactyly harbouring a 17p13.3 duplication detected by array-CGH. Both duplications contain 3 genes including BHLHA9 and are inherited from an unaffected parent. One of the patients presents a complete radial agenesis, expanding the phenotype of SHFLD3. (C) 2012 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码：88 / 92
页数：5
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