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首页> 外文期刊>BMC Medical Genetics >Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
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Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

机译：浮港综合征患者的SRCAP外显子33和34突变谱的扩大和随访

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Background Floating-Harbor syndrome is a rare autosomal dominant short stature syndrome with retarded speech development, intellectual disability and dysmorphic facial features. Recently dominant mutations almost exclusively located in exon 34 of the Snf2-related CREBBP activator protein gene were identified to cause FHS. Methods Here we report the genetic analysis of 5 patients fulfilling the diagnostic criteria of FHS obtained by Sanger sequencing. All of them presented with short stature, speech delay as well as psychomotor delay and typical facial dysmorphism. Three patients showed a good response to growth hormone treatment. Results Two patients demonstrate novel, heterozygous de novo frameshift mutations in exon 34 (c.7396delA and c.7218dupT) leading to premature stop mutations in SRCAP (p.Val2466Tyrfs*9 and p.Gln2407Serfs*36, respectively). In two further patients we found already known SRCAP mutations in exon 34, c.7330C?>?T and c.7303C?>?T, respectively, which also lead to premature stop codons: p.Arg2444* and p.Arg2435*. In one patient, we identified a novel de novo stop mutation in exon 33 (c.6985C?>?T, p.Arg2329*) demonstrating that not all FHS cases are caused by mutations in exon 34 of SRCAP. Conclusions Our data confirm a mutational hot spot in the final exon of SRCAP in the majority of FHS patients but also show that exon 33 of this gene can be affected.
机译：背景Floating-Harbor综合征是一种罕见的常染色体显性矮身材综合征，伴有言语发育迟缓，智力残疾和面部畸形。最近发现，几乎仅位于Snf2相关CREBBP激活蛋白基因外显子34上的显性突变引起FHS。方法我们在此报告了通过Sanger测序获得的5例符合FHS诊断标准的患者的遗传分析。他们都表现出身材矮小，言语迟钝，精神运动迟缓和典型的面部畸形。三例患者对生长激素治疗表现出良好的反应。结果两名患者在外显子34（c.7396delA和c.7218dupT）中表现出新的杂合的从头突变，导致SRCAP的过早终止突变（分别为p.Val2466Tyrfs * 9和p.Gln2407Serfs * 36）。在另外两名患者中，我们在外显子34中发现了已知的SRCAP突变，分别为c.7330Cα>ΔT和c.7303Cα>ΔT，它们也导致过早的终止密码子：p.Arg2444 *和p.Arg2435 *。在一名患者中，我们在第33外显子中发现了一种新的从头终止突变（c.6985C→T，p.Arg2329 *），这表明并非所有FHS病例都是由SRCAP第34外显子的突变引起的。结论我们的数据证实了大多数FHS患者中SRCAP最终外显子的突变热点，但也表明该基因的第33外显子可能受到影响。

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