<i>LAMA1</i> variants were identified Joubert syndrome patient

Noguchi, Yutaro; Hinokuma, Nodoka; Tominaga, Mitsuhiro; Miyamoto, Sachiko; Nakashima, Mitsuko

doi:10.1111/ped.14980

Cited by 3 publications

(1 citation statement)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our study, we identified two cases, MOL2246-1 and MOL22151-1, marking the first documented instances in Israel of Joubert syndrome associated with mutations in the ARMC9 and LAMA1 genes, respectively. Notably, these genes are rare contributors to this syndrome; in the literature, only 19 cases of ARMC9 mutations have been reported across five different articles from Japanese [5][6], Chinese [7], Turkish [8], and Indian [9] populations, while LAMA1 mutations have been documented in just five cases from British [10] and Japanese [11] cohorts spanning two articles. This underscores the rarity and global diversity of genetic variants contributing to Joubert syndrome.…”

Section: Novel Genetic Discoveries In Israeli Patients: Unveiling Rar...mentioning

confidence: 99%

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes

Abu Elasal,

Mousa,

Salameh

et al. 2024

Preprint

View full text Add to dashboard Cite

Inherited retinal diseases (IRDs) are extremely heterogeneous with at least 350 causative genes, complicating the process of genetic diagnosis. We analyzed samples of 252 index cases with IRDs using the Blueprint Genetics panel for “Retinal Dystrophy” that includes 351 genes. The cause of disease could be identified in 55% of cases. A clear difference was obtained between newly-recruited cases (74% solved) and cases that were previously analyzed by panels or whole exome sequencing (26% solved). As for the mode of inheritance, 75% of solved cases were autosomal recessive (AR), 10% were X-linked, 8% were autosomal dominant, and 7% were mitochondrial. Interestingly, in 12% of solved cases, structural variants (SVs) were identified as the cause of disease. The most commonly identified genes were ABCA4, EYS and USH2A, and the most common mutations were MAK-c.1297_1298ins353 and FAM161A- c.1355_1356del. In line with our previous IRD carrier analysis, we identified heterozygous AR mutations that are not the cause of disease in 36% of cases. The studied IRD panel was found to be efficient in gene identification. Some variants were mis-interpreted by the pipeline and therefore multiple analysis tools are recommended to obtain more accurate annotation of potential disease-causing variant.

show abstract

Section: Novel Genetic Discoveries In Israeli Patients: Unveiling Rar...mentioning

confidence: 99%

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes

Abu Elasal,

Mousa,

Salameh

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia

Geerts

Sznajer

D’haenens

et al. 2023

European Journal of Medical Genetics

View full text Add to dashboard Cite

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes

Abu Elasal,

Mousa,

Salameh

et al. 2024

Genes

View full text Add to dashboard Cite

Inherited retinal diseases (IRDs) are extremely heterogeneous with at least 350 causative genes, complicating the process of genetic diagnosis. We analyzed samples of 252 index cases with IRDs using the Blueprint Genetics panel for “Retinal Dystrophy” that includes 351 genes. The cause of disease could be identified in 55% of cases. A clear difference was obtained between newly recruited cases (74% solved) and cases that were previously analyzed by panels or whole exome sequencing (26% solved). As for the mode of inheritance, 75% of solved cases were autosomal recessive (AR), 10% were X-linked, 8% were autosomal dominant, and 7% were mitochondrial. Interestingly, in 12% of solved cases, structural variants (SVs) were identified as the cause of disease. The most commonly identified genes were ABCA4, EYS and USH2A, and the most common mutations were MAK-c.1297_1298ins353 and FAM161A-c.1355_1356del. In line with our previous IRD carrier analysis, we identified heterozygous AR mutations that were not the cause of disease in 36% of cases. The studied IRD panel was found to be efficient in gene identification. Some variants were misinterpreted by the pipeline, and therefore, multiple analysis tools are recommended to obtain a more accurate annotation of potential disease-causing variants.

show abstract

LAMA1 variants were identified Joubert syndrome patient

Cited by 3 publications

References 6 publications

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes

Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes

Contact Info

Product

Resources

About