RAB23 Mutation in a Large Family from Comoros Islands With Carpenter Syndrome
RAB23 Mutation in a Large Family from Comoros Islands With Carpenter Syndrome
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DOI：
10.1002/ajmg.a.33327
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发表时间：
2010-04-01
影响因子：
2
通讯作者：
Cormier-Daire, Valerie
中科院分区：
文献类型：
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作者：
Alessandri, Jean-Luc;Dagoneau, Nathalie;Cormier-Daire, Valerie
我们在这里报告的RAB 23突变（c.86dupA）存在于纯合子状态的四个亲戚科摩罗起源与卡彭特综合征。所有患儿均表现为尖头畸形和多并指畸形。然而，家族内的变异性，观察到不同严重程度的颅缝早闭，从三叶草头骨的主要参与额顶骨嵴。所有儿童还表现为短指（趾）伴中节指骨发育不全、并指（趾）、宽拇指和轴后多指（趾）（2/4），以及轴前多指（趾）（趾）（3）和并指（趾）（4）。所有四个孩子的智力发育都是正常的，但最大的一个由于骨科并发症而表现出运动发育受损。脑影像学显示2/4例脑积水，其他特征包括外翻（2/4）、生殖器异常（3/4）、角膜异常（2/4）、脐疝（1/4）、重度脊柱侧凸（1）、动脉导管未闭（1/4）和副脾（1）。与以前的报告相反，除了一名患者外，生长低于平均水平，年龄最大的患者随着时间的推移变得中度超重。我们的结论是，从这个大的独特的家庭与四个受影响的孩子，卡彭特综合征是一个遗传同质性，但临床上可变的条件的报告。(c)2010 Wiley-Liss，Inc.
We report here on a RAB23 mutation (c.86dupA) present in the homozygote state in four relatives of Comorian origin with Carpenter syndrome. All children presented with acrocephaly and polysyndactyly. However, intrafamilial variability was observed with variable severity of craniosynostosis ranging from cloverleaf skull to predominant involvement of the metopic ridge. All children also presented with a combination of brachydactyly with agenesis of the middle phalanges, syndactyly, broad thumbs, and postaxial polydactyly (2/4) in the hands, and preaxial polydactyly (3) and syndactyly (4) in the toes. Mental development was normal in all four children but the eldest one presented with impaired motor development as a result of orthopedic complications. Brain imaging showed hydrocephalus in 2/4 and additional features included genu valgum (2/4), abnormal genitalia (3/4), corneal anomaly (2/4), umbilical hernia (1/4), severe cyphoscoliosis (1), patent ductus arteriosus (1/4), and accessory spleen (1). In contrast to previous reports, growth was below average except for one patient and the eldest one became moderately overweight with time. We conclude from the report of this large unique family with four affected children that Carpenter syndrome is a genetically homogenous but a clinically variable condition. (c) 2010 Wiley-Liss, Inc.