DeSanto-Shinawi综合征(DESSH,OMIM#616708)是由WAC基因的致病变异所惹起的一种罕见的遗传病。这种综合征的特点是广泛的身体和神经症状,包括畸形特征,发育迟缓,智力残疾,和行为异常。DESSH在2015年由DeSanto描述,从那以后,全世界只报告了几十例。最近的研究集中在确定该综合征的潜在遗传原因以及探索潜在的治疗方法。在这份报告中,我们描述了一个女性病例,其畸形特征包括长睑裂,鼻根凹陷,轻度球形鼻尖,薄薄的上唇,多毛症,短手指,和智力残疾,说话延迟,和运动迟缓。此外,她有行为异常,比如激动,焦虑,注意缺陷多动障碍(ADHD)。临床外显子组测序显示在WAC基因c.1837C>T的外显子13中有致病性杂合无义变异,p.(Arg613Ter)具有从头继承。据我们所知,这是土耳其报告的第一例DESSH。我们旨在报告这种罕见综合征,并将我们病例的临床表现与文献中先前报道的病例进行比较。
DeSanto-Shinawi syndrome (DESSH, OMIM #616708) is a rare genetic disorder caused by pathogenic variants in the WAC gene. This syndrome is characterized by a wide range of physical and neurological symptoms including dysmorphic features, developmental delay, intellectual disability, and behavioral abnormalities. DESSH was described by DeSanto in 2015, and since then, only a few dozen cases have been reported worldwide. Recent research has focused on identifying the underlying genetic cause of the syndrome as well as exploring potential treatments. In this report, we describe a female
case who had dysmorphic features including long palpebral fissures, depressed nasal root, mild bulbous nasal tip, thin upper lip, hypertrichosis, short fingers, and intellectual disability, speech delay, and motor retardation. In addition, she had behavioral abnormalities such as agitation, anxiety, and attention deficit hyperactivity disorder (ADHD). Clinical exome sequencing showed a pathogenic heterozygous nonsense variant in exon 13 of the WAC gene c.1837C>T, p.(Arg613Ter) with de novo inheritance. To the best of our knowledge, this is the first
case of DESSH reported from Turkey. We aimed to report this rare syndrome and compare the clinical findings of our
case with previously reported cases in the literature.