TUBB3 M323V Syndrome Presents with Infantile Nystagmus

Jin, Soohwa; Park, Sung-Eun; Won, Dongju; Lee, Seung Tae; Han, Sueng‐Han; Han, Jinu

doi:10.3390/genes12040575

Cited by 7 publications

(5 citation statements)

References 34 publications

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“…The other 59 patients (39.6%) remained unsolved after targeted NGS. Among solved 90 patients, 25 patients were previously reported by our group [ 12 , 24 , 25 , 26 , 27 , 28 , 29 , 30 ]. The molecular diagnostic rate was higher in patients with family history than in singleton cases (86.8% vs. 51.4%, p < 0.001).…”

Section: Resultsmentioning

confidence: 99%

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort

Moon

Park

Surl

et al. 2021

Genes

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In this study, we investigated medically or surgically actionable genes in inherited eye disease, based on clinical phenotype and genomic data. This retrospective consecutive case series included 149 patients with inherited eye diseases, seen by a single pediatric ophthalmologist, who underwent genetic testing between 1 March 2017 and 28 February 2018. Variants were detected using a target enrichment panel of 429 genes and known deep intronic variants associated with inherited eye disease. Among 149 patients, 38 (25.5%) had a family history, and this cohort includes heterogeneous phenotype including anterior segment dysgenesis, congenital cataract, infantile nystagmus syndrome, optic atrophy, and retinal dystrophy. Overall, 90 patients (60.4%) received a definite molecular diagnosis. Overall, NGS-guided precision care was provided to 8 patients (5.4%). The precision care included cryotherapy to prevent retinal detachment in COL2A1 Stickler syndrome, osteoporosis management in patients with LRP5-associated familial exudative vitreoretinopathy, and avoidance of unnecessary phlebotomy in hyperferritinemia-cataract syndrome. A revision of the initial clinical diagnosis was made in 22 patients (14.8%). Unexpected multi-gene deletions and dual diagnosis were noted in 4 patients (2.7%). We found that precision medical or surgical managements were provided for 8 of 149 patients (5.4%), and multiple locus variants were found in 2.7% of cases. These findings are important because individualized management of inherited eye diseases can be achieved through genetic testing.

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Section: Resultsmentioning

confidence: 99%

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort

Moon

Park

Surl

et al. 2021

Genes

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“…Interestingly, this study found that the high expression of CCR1 was significantly related to the good prognosis of GC patients, whether CCR1 can participate in the GC process through chemokine antagonism is our next step. The protein of TUBB3 is mainly expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance (34). Cao et al (35) found that the expression of TUBB3 is significantly correlated with the clinicopathologic characteristics of gastric cancer patients, such as age, sex and family history.…”

Section: Discussionmentioning

confidence: 99%

Establishment and Analysis of an Individualized Immune-Related Gene Signature for the Prognosis of Gastric Cancer

Cao

Huang

et al. 2022

Front. Surg.

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A growing number of studies have shown that immunity plays an important clinical role in the process of gastric cancer (GC). The purpose of this study was to explore the function of differentially expressed immune-related genes (DEIRGs) of GC, and construct a gene signature to predict the overall survival (OS) of patients. Gene expression profiles and clinical data of GC patients were downloaded from TCGA and GEO databases. Combined with immune-related genes (IRGs) downloaded from the ImmPort database, 357 DEIRGs in GC tissues and adjacent tissues were identified. Based on the analysis of Lasso and Cox in the training set, a prognostic risk scoring model consisting of 9 (RBP7, DES, CCR1, PNOC, SPP1, VIP, TNFRSF12A, TUBB3, PRKCG) DEIRGs was obtained. Functional analysis revealed that model genes may participate in the formation and development of tumor cells by affecting the function of cell gap junction intercellular communication (GJJC). According to the model score, the samples were divided into high-risk and low-risk groups. In multivariate Cox regression analysis, the risk score was an independent prognostic factor (HR = 1.674, 95% CI = 1.470–1.907, P < 0.001). Survival analysis showed that the OS of high-risk GC patients was significantly lower than that of low-risk GC patients (P < 0.001). The area under the receiver operating characteristic curve (ROC) of the model was greater than other clinical indicators when verified in various data sets, confirming that the prediction model has a reliable accuracy. In conclusion, this study has explored the biological functions of DEIRGs in GC and discovered novel gene targets for the treatment of GC. The constructed prognostic gene signature is helpful for clinicians to determine the prognosis of GC patients and formulate personalized treatment plans.

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“…Therefore, researchers preferred to name these syndromic phenotypes after specific variants. Up to date, "TUBB3 E410K syndrome", "TUBB3 R262H syndrome" and "TUBB3 M323V syndrome" were used to name the diseases caused by E410K, R262H and M323V variants, respectively [4,31,32]. Furthermore, the patients with "TUBB3 E410K syndrome" and "TUBB3 R262H syndrome" were easily misdiagnosed as MBS owing to similar clinical manifestations (facial weakness and limitation of eye movements etc.)…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders

Jia

Liang

et al. 2022

Orphanet J Rare Dis

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Background Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic resonance imaging (MRI) and whole exome sequencing (WES) were performed to reveal the phenotypic and genotypic characteristics in a cohort of Chinese CCDDs patients. Results A total of 122 CCDDs patients from 96 families were enrolled. All patients showed restrictive eye movements, and 46 patients from 46 families (47.9%, 46/96) were accompanied by multiple congenital malformations. Multi-positional high-resolution MRI was performed in 94 patients from 88 families, of which, all patients had hypoplasia of the cranial nerves except HGPPS patients and 15 patients from 15 families (17.0%,15/88) were accompanied by other craniocerebral malformations. WES was performed in 122 CCDDs patients. Ten pathogenic variants were detected in KIF21A, TUBB3, and CHN1 genes in 43 families. Three variants were unreported, including KIF21A (c.1064T > C, p.F355S), TUBB3 (c.232T > A, p.S78T) and CHN1 (c.650A > G, p.H217R). Of the 43 probands harboring pathogenic variants, 42 were diagnosed with Congenital Fibrosis of Extraocular Muscles (CFEOM) and one was Duane Retraction Syndrome (DRS). No definite pathogenic variants in known candidate genes of CCDDs were found in sporadic DRS, Möbius Syndrome (MBS) and Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) patients. The CFEOM patients harboring R380C, E410K and R262H variants in TUBB3 gene and F355S variant in KIF21A gene exhibited syndromic phenotypes. Conclusions This study broadened the phenotypic and genotypic spectrums of CCDDs, and it was the largest clinical and genetic investigation for CCDDs patients from China. KIF21A and TUBB3 were the common pathogenic genes in Chinese CFEOM. MRI coupled with WES can provide a supportive diagnosis in patients with clinically suspected CCDDs.

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TUBB3 M323V Syndrome Presents with Infantile Nystagmus

Cited by 7 publications

References 34 publications

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort

Establishment and Analysis of an Individualized Immune-Related Gene Signature for the Prognosis of Gastric Cancer

Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders

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