The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
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DOI：
10.1002/ajmg.a.38581
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发表时间：
2018-03
期刊：
影响因子：
--
通讯作者：
Bober M
中科院分区：
文献类型：
--
作者：
Farach LS;Little ME;Duker AL;Logan CV;Jackson A;Hecht JT;Bober M
迄今为止，RNU4ATAC致病性变体与1型小头骨发育不良性原始侏儒症和Roifman综合征相关。这两种情况是临床上不同的骨骼发育不良与小头骨发育不良性原始侏儒症，1型有一个更严重的表型比罗夫曼综合征。这两种疾病的一些重叠特征包括发育迟缓、小头畸形和免疫缺陷。这些特征也与Lowry Wood综合征重叠，Lowry Wood综合征是另一种罕见但明确的骨骼发育不良，其遗传病因尚未确定。特征包括多发性骨骺发育不良和小头畸形。在这里，我们描述了3例双等位基因RNU4ATAC致病变异的Lowry Wood综合征患者。这份报告扩展了双等位基因RNU4ATAC疾病引起的变异体的表型谱，是第一个建立Lowry Wood综合征的遗传原因。
RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions are clinically distinct skeletal dysplasias with microcephalic osteodysplastic primordial dwarfism, type 1 having a more severe phenotype than Roifman syndrome. Some of the overlapping features of the two conditions include developmental delay, microcephaly, and immune deficiency. The features also overlap with Lowry Wood syndrome, another rare but well-defined skeletal dysplasia for which the genetic etiology has not been identified. Characteristic features include multiple epiphyseal dysplasia and microcephaly. Here, we describe three patients with Lowry Wood syndrome with biallelic RNU4ATAC pathogenic variants. This report expands the phenotypic spectrum for biallelic RNU4ATAC disorder causing variants and is the first to establish the genetic cause for Lowry Wood syndrome.
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影响因子：
2
作者：
Brunetti-Pierri, N;De Brasi, D;Sebastio, G
通讯作者：
Sebastio, G
DOI：
10.1002/ajmg.1320210318
发表时间：
1985-01-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
WINTER, RM;WIGGLESWORTH, J;HARDING, BN
通讯作者：
HARDING, BN
影响因子：
56.9
作者：
Edery, Patrick;Marcaillou, Charles;Leutenegger, Anne-Louise
通讯作者：
Leutenegger, Anne-Louise
影响因子：
4
作者：
MEINECKE, P;PASSARGE, E
通讯作者：
PASSARGE, E
影响因子：
16.6
作者：
Merico, Daniele;Roifman, Maian;Scherer, Stephen W.
通讯作者：
Scherer, Stephen W.