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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
Institution:1. Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia;2. Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, 21589 Jeddah, Saudi Arabia;3. Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Box 80215, Jeddah 21589, Saudi Arabia;4. Department of Medical Genetics, King Fahad General Hospital, 21589 Jeddah, Saudi Arabia;5. Center for Innovation in Personalized Medicine, King Abdulaziz University, 21589 Jeddah, Saudi Arabia;6. Department of Physiology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
Abstract: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.
Keywords:IDDABS  Intellectual developmental disorder  Dysmorphic facies  WES  Saudi family
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