Next‐generation sequencing‐aided precise diagnosis of Stickler syndrome type I

Wang, Dan‐Dan; Gao, Feng‐Juan; Hu, Fangyuan; Li, Jian‐Kang; Zhang, Sheng‐Hai; Xu, Ping; Chang, Qing; Jiang, Rui; Wu, Jihong

doi:10.1111/aos.14302

Cited by 5 publications

(2 citation statements)

References 28 publications

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“…In a study by Wang et al ., 115 patients with high myopia were analyzed by NGS, and five Stickler patients from four unrelated Chinese families were identified. [ 32 ] Clinicians should be aware of the possibility of Stickler syndrome in patients with congenital high myopia, and therefore, genotype surveys are important for precise diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Mutation survey in Taiwanese patients with Stickler syndrome

Kuo

Huang

Wang

et al. 2022

Taiwan Journal of Ophthalmology

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PURPOSE: The purpose of this study was to identify gene mutation and phenotype correlations in a cohort of Taiwanese patients with Stickler syndrome. MATERIALS AND METHODS: Patients clinically diagnosed with Stickler syndrome or suspected Stickler syndrome were enrolled. DNA was extracted from venous blood samples. For the targeted next-generation sequencing (NGS) approach, specific primers were designed for all COL2A1 , COL11A1 , COL11A2 , COL9A1 , and COL9A2 exons and flanking intron sequences. RESULTS: Twenty-three patients from 12 families were enrolled in this study. The myopia power in these 23 cases (35 eyes) ranged from −4.625 to −25.625 D, with a median of −10.00 D. Four patients had retinal detachment. Fourteen patients had a cleft palate. These 23 patients and 13 healthy controls were enrolled in the NGS study. Three families had significant single nucleotide variants (SNVs) in COL2A1 . The mutation rates in this survey were 25% (3/12 families) and 35% (8/23 cases). The SNV of family #1, located at exon 27, c.1753G >T, p. Gly585Val, was novel and has not yet been reported in the ClinVar database. Families #10 and #11 had the same SNV, located in exon 33, c.2101C >T, p. Arg701X. Both variants were classified as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines. CONCLUSION: Genetic mutations in COL2A1 were found in 25% of Taiwanese families with Stickler syndrome. One novel variant was identified using NGS, which expanded the COL2A1 mutation spectrum. Molecular genetic analysis is helpful to confirm the clinical diagnosis of patients with suspected Stickler syndrome.

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Section: Discussionmentioning

confidence: 99%

Mutation survey in Taiwanese patients with Stickler syndrome

Kuo

Huang

Wang

et al. 2022

Taiwan Journal of Ophthalmology

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“…Recently introduced NGS technology is very powerful and cost-effective in variant analysis, and is actively used in causative variant analysis of many diseases [16]. A number of results have been reported in Stickler syndrome patients [17][18][19]. Since the identification of Stickler syndrome, diagnosis has been made primarily by clinical aspects.…”

Section: Introductionmentioning

confidence: 99%

Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1

Choi

Woo

et al. 2021

Genes

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Stickler syndrome is an inherited connective tissue disorder of collagen. There are relatively few reports of East Asian patients, and no large-scale studies have been conducted in Korean patients yet. In this study, we retrospectively analyzed the genetic characteristics and clinical features of Korean Stickler syndrome patients. Among 37 genetically confirmed Stickler syndrome patients, 21 types of gene variants were identified, of which 12 were novel variants. A total of 30 people had variants in the COL2A1 gene and 7 had variants in the COL11A1 gene. Among the types of pathogenic variants, missense variants were found in 11, nonsense variants in 8, and splice site variants in 7. Splicing variants were frequently associated with retinal detachment (71%) followed by missense variants. This is the first large-scale study of Koreans with Stickler syndrome, which will expand the spectrum of genetic variations of Stickler syndrome.

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Genetics of Pierre Robin Syndrome/Sequence

Augustine

Sowmya

Haragannavar

et al. 2022

Encyclopedia of Life Sciences

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The triad of congenital micrognathia, glossoptosis and upper airway obstruction observed in Pierre Robin Syndrome (PRS) is displayed in three different forms. A bibliographic search was done in the PubMed database with keywords Pierre Robin syndrome/sequence and genetic mutations. English literature published from 2015 to 2021 specifically to the genetic associations with PRS were included and were subsequently discussed in the following subsections: (1) Case reports, (2) Case series, (3) Cohort studies and (4) Animal models. The genes involved in the human syndromic PRS phenotypes as reported in the Online Mendelian Inheritance in Man (OMIM) and the Monarch Initiative were done. The mutations reported in syndromic cases are more specific to the syndrome in comparison to isolated cases. The involvement of transcription factor SOX9 is known to be strongly associated with PRS phenotype. The technologies can detect these mutations efficiently and help in the diagnostic approach. Key Concepts Diverse mutations are reported in PRS. Newer technologies can detect these mutations efficiently. Identifying genetic mutations aid in genetic counselling. Transcription factor SOX9 is strongly associated with PRS phenotype. A comprehensive workup is required to diagnose PRS.

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Next‐generation sequencing‐aided precise diagnosis of Stickler syndrome type I

Cited by 5 publications

References 28 publications

Mutation survey in Taiwanese patients with Stickler syndrome

Mutation survey in Taiwanese patients with Stickler syndrome

Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1

Genetics of Pierre Robin Syndrome/Sequence

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