BACKGROUND:Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions. CASE PRESENTATION:We report a male infant born with multiple anomalies including bilateral dysplastic kidneys, cleft palate, bilateral talipes, and bilateral absence of thumbs and first toes. Prenatal testing including chromosome analysis and microarray did not identify a cause for the multiple congenital anomalies. Postnatal diagnostic exome studies (DES) were utilized to find a molecular diagnosis for the patient. Exome sequencing of the proband, mother, and father showed a previously unreported maternally inherited RNA binding motif protein 10 (RBM10) c.1352_1353delAG (p.E451Vfs*66) alteration. Mutations in RBM10 are associated with TARP syndrome, an X-linked recessive disorder originally described with cardinal features of talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava. CONCLUSION:DES established a molecular genetic diagnosis of TARP syndrome for a neonatal patient with a poor prognosis in whom traditional testing methods were uninformative and allowed for efficient diagnosis and future reproductive options for the parents. Other reported cases of TARP syndrome demonstrate significant variability in clinical phenotype. The reported features in this infant including multiple hemivertebrae, imperforate anus, aplasia of thumbs and first toes have not been reported in previous patients, thus expanding the clinical phenotype for this rare disorder.

译文

背景:外显子诊断测序(DES)已被证明是诊断患有可疑遗传疾病的个体的有效工具。
病例介绍:我们报告了一个男婴,其出生时有多种异常,包括双侧发育不良的肾脏,left裂,双侧滑石和双侧拇指和第一脚趾缺失。包括染色体分析和微阵列在内的产前检查并未发现多种先天性异常的原因。产后诊断外显子组研究(DES)用于为患者寻找分子诊断。先证者,母亲和父亲的外显子组测序显示以前未报告的母体遗传RNA结合基序蛋白10(RBM10)c.1352_1353delAG(p.E451Vfs * 66)改变。 RBM10中的突变与TARP综合征有关,TARP综合征是一种X连锁隐性疾病,最初被描述为具有等角锥虫,房间隔缺损,Robin序列和持续性左上腔静脉的基本特征。
结论:DES为预后不良的新生儿建立了TARP综合征的分子遗传学诊断,该患者传统的检测方法无法提供信息,并且可以为父母提供有效的诊断和未来的生育选择。其他报道的TARP综合征病例在临床表型上显示出显着的变异性。先前的患者尚未报道该婴儿的报道特征,包括多发性半椎,肛门无孔,拇指发育不全和第一脚趾发育不全,因此扩大了这种罕见疾病的临床表型。

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