The Syndrome of Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly and Lissencephaly (DREAM-PL): Report of Two Additional Patients
The Syndrome of Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly and Lissencephaly (DREAM-PL): Report of Two Additional Patients
复制标题
DOI：
10.1002/ajmg.a.37877
复制
发表时间：
2016-12-01
影响因子：
2
通讯作者：
Alkuraya, Fowzan S.
中科院分区：
文献类型：
--
作者：
Shaheen, Ranad;Al-Salam, Zakariya;Alkuraya, Fowzan S.
我们最近描述了一个新认识的综合征形式的先天性小头畸形的一部分，一个大的队列，显然是新的畸形综合征。报告的沙特阿拉伯患者有严重的原发性小头畸形，男性生殖器模糊，畸形面容，多指畸形和肾发育不全。在所有患者中鉴定出相同的纯合子CTU 2突变。虽然核苷酸改变c.873G>A不改变密码子，但它完全消除了共有供体位点，导致移码和过早截短（（NM_001012762.1）：p.Thr247Alafs*21）。在这份报告中，我们描述了来自阿拉伯联合酋长国的两个堂兄弟，他们的临床表现与最近描述的综合征一致，并且都被发现在相同的单倍型背景下具有相同的突变。我们提出首字母缩写DREAM-PL来突出这种综合征的主要临床特征，我们认为基于高载波频率的外显子组测序诊断不足，最有可能是由于突变的明显同义性质。(C)2016 Wiley Periodicals，Inc.
We have recently described a newly recognized syndromic form of congenital microcephaly as part of a large cohort of apparently novel dysmorphic syndromes. The reported Saudi Arabian patients have severe primary microcephaly, ambiguous male genitalia, dysmorphic facies, polydactyly, and renal agenesis. The same homozygous CTU2 mutation was identified in all patients. Although the nucleotide change c.873G>A does not change the codon, it completely abolishes a consensus donor site resulting in frameshift and premature truncation ((NM_001012762.1): p.Thr247Alafs*21). In this report, we describe two cousins from United Arab Emirates whose clinical presentation was consistent with this recently described syndrome and both were found to have the same mutation on the same haplotypic background. We propose the acronym DREAM-PL to highlight the main clinical features of this syndrome, which we believe is underdiagnosed by exome sequencing based on the high carrier frequency, most likely due to the apparently synonymous nature of the mutation. (C) 2016 Wiley Periodicals, Inc.