Kok Kilic G.Isik E.Alpay O.Atik T.Aykut A.Durmaz A.Cogulu O.2023-01-122023-01-1220221769-7212https://doi.org/10.1016/j.ejmg.2022.104610https://hdl.handle.net/11454/79541Neurodevelopmental disorders are a heterogeneous group of diseases. Clinical presentation often overlaps with neurodevelopmental disorders, and explaining the molecular origin often requires reverse phenotyping. Next-Generation Sequencing (NGS) allows fast and cost-effective high-throughput sequencing. Given this fact, NGS is a useful tool for reverse phenotyping, especially for rare diseases. We hereby present two similarly affected siblings with neurodevelopmental delay. Duo-whole exome sequencing was performed. The homozygous LSM1 variant was found as the most likely cause for the condition. Our report contributes to the literature on the phenotype the biallelic LSM1 mutations. Moreover, we highlight the importance of reverse phenotyping and reanalysis of the genetic data. © 2022 Elsevier Masson SASen10.1016/j.ejmg.2022.104610info:eu-repo/semantics/closedAccessExomeLSM1Neurodevelopmental disordersNext-generation sequencingabdomenalleleattention deficit hyperactivity disorderbiochemical analysisbone examinationbraincase reportchildclinical articlecoxa valgadevelopmental delaydisease classificationechocardiographyechographyeye examinationface malformationfamily historyfatty liverfollow upforeheadgene frequencygenetic associationhearing impairmenthearing testheightheterozygotehigh throughput sequencinghomozygosityhospitalhumanhydramnioshypertelorismhypospadiasintellectual impairmentiron deficiencyjoint laxityLetterlower limblsm1 genemalemedical historymental diseasemothermouthnuclear magnetic resonance imagingoncogeneparentphenotypephenotypic variationphysical examinationprenatal carerare diseaseschool childscoliosissegregation analysissiblingspasticitytoothureter dilatationvasodilatationvisual evoked potentialweightwhole exome sequencinggeneticshomozygotewhole exome sequencingLSM1 protein, humanoncoproteinRNA binding proteinHigh-Throughput Nucleotide SequencingHomozygoteHumansNeurodevelopmental DisordersPhenotypeProto-Oncogene ProteinsRNA-Binding ProteinsWhole Exome SequencingLetter65112-s2.0-8513769067036100156N/A