Distinct phenotype of PHF6 deletions in females
Distinct phenotype of PHF6 deletions in females
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DOI：
10.1016/j.ejmg.2013.12.003
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发表时间：
2014-02-01
影响因子：
1.9
通讯作者：
Hackmann, K.
中科院分区：
文献类型：
--
作者：
Di Donato, N.;Isidor, B.;Hackmann, K.
我们报告了两名女性患者携带涉及PHF6基因的100kb和270kb的Xq26.2小重叠缺失。据报道，Borjeson-Forssman-Lehmann综合征患者中存在PHF6突变，这种疾病几乎只存在于男性。最近的两篇论文揭示了7名女性智障患者的PHF6缺陷，其表型类似于Coffin-Siris综合征(稀疏头发、双颞叶狭窄、弓形眉毛、突触、鼻根高大、鼻尖球状、五指末端指骨发育不良和脚趾皮肤并指明显的斜指畸形，Blaschklike线状皮肤色素沉着，牙齿异常，偶尔还会出现重大畸形)。这些患者的临床表现与我们的第一位患者完全重叠，第一位患者携带涉及PHF6的生殖系缺失。第二例患者有一个嵌合体缺失，在女性中表现为非常轻微的PHF6缺失。我们的报告证实，女性PHF6缺失导致一种可识别的表型，与Coffin-Siris综合征重叠，与Borjeson-Forssman-Lehmann综合征不同。我们扩大了临床范围，并提供了推荐的医学评估的第一个摘要。(C)2014年爱思唯尔·马森公司。版权所有。
We report on two female patients carrying small overlapping Xq26.2 deletions of 100 kb and 270 kb involving the PHF6 gene. Mutations in PHF6 have been reported in individuals with Borjeson-Forssman-Lehmann syndrome, a condition present almost exclusively in males. Two very recent papers revealed de novo PHF6 defects in seven female patients with intellectual disability and a phenotype resembling Coffin-Siris syndrome (sparse hair, bitemporal narrowing, arched eyebrows, synophrys, high nasal root, bulbous nasal tip, marked clinodactyly with the hypoplastic terminal phalanges of the fifth fingers and cutaneous syndactyly of the toes, Blaschkoid linear skin hyperpigmentation, dental anomalies and occasional major malformations). The clinical presentation of these patients overlaps completely with our first patient, who carries a germline deletion involving PHF6. The second patient has a mosaic deletion and presented with a very mild phenotype of PHF6 loss in females. Our report confirms that PHF6 loss in females results in a recognizable phenotype overlapping with Coffin-Siris syndrome and distinct from Borjeson-Forssman-Lehmann syndrome. We expand the clinical spectrum and provide the first summary of the recommended medical evaluation. (C) 2014 Elsevier Masson SAS. All rights reserved.