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首页> 外文期刊>Saudi Journal of Biological Sciences >Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly
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Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly

机译：下一代测序揭示了PUS7中的新型纯合架和AASS基因的接头受体变体，导致智力残疾，发育延迟，疑风特征和微术

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Intellectual developmental disorder with abnormal behavior, microcephaly and short stature (IDDABS), (OMIM# 618342) is an autosomal recessive condition described as developmental delay, poor or absent speech, intellectual disability, short stature, mild to progressive microcephaly, delayed psychomotor development, hyperactivity, seizure, along with mild to swear aggressive behavior. Homozygous frameshift mutation in Pseudouridine Synthase 7, Putative; (PUS7) OMIM# 616,261 NM_019042.3 and splice acceptor variants in Alpha-Aminoadipic Semialdehyde Synthase; (AASS) OMIM# 605,113 NM_005763.3 was funded. Whole exome sequencing (WES) technique was used as tool to identify the molecular diagnostic test. Different bioinformatics analysis done for WES data and we identified two novel mutations one as frameshift mutation c.606_607delGA, p.Ser282CysfsTer9 in the PUS7 gene and splice acceptor variants c.1767–1 G??A in the AASS gene has been reported. The pattern of family segregation maintained the pathogenicity of this variation associated with abnormal behavior, intellectual developmental disorder, microcephaly along with short stature IDDABS. Further, the WES data was validated in the family having other affected individuals and healthy controls (n?=?100) was done using Sanger sequencing. Finally, our results further explained the role of WES in the disease diagnosis and elucidated that the mutation in PUS7 and AASS genes may lead an important role for the development of IDDABS in Saudi family.
机译：智力发育障碍异常行为，微骨骼和短地（Iddabs），（OMIM＃618342）是一种常染色体隐性条件被描述为发育延迟，差或缺乏言论，智力残疾，矮小的身材，轻度到进步微术，延迟精神术，延迟精神术，多动症，癫痫发作，以及轻度发誓攻击行为。假尿素合成酶7中的纯合架突变，推定; （PUS7）OMIM＃616,261 NM_019042.3和α-氨辅助型半醛合成酶中的接头受体变体; （AASS）OMIM＃605,113 NM_005763.3资助。全外壳测序（WES）技术用作识别分子诊断试验的工具。为WES数据进行了不同的生物信息学分析，并鉴定了两种新突变，作为帧突变突变C.606_607Delga，P.Ser282cysfst9，PuS7基因中的P.Ser282cysfst9和剪接受体变体C.1767-1g'α.家庭分离的模式保持了与异常行为相关的这种变异，智力发育障碍，小头畸形以及短地形Iddabs相关的这种变异的致病性。此外，在具有其他受影响的个体的家庭中验证了WES数据，并使用Sanger测序完成了健康对照（N？= 100）。最后，我们的结果进一步解释了WES在疾病诊断中的作用，并阐明了PUS7和AASS基因的突变可能对沙特家族的iddabs发育具有重要作用。

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