Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24435
Abstract: Aminoacyl‐tRNA synthetases (ARSs) are essential enzymes for faithful assignment of amino acids to their cognate tRNA. Variants in ARS genes are frequently associated with clinically heterogeneous phenotypes in humans and follow both autosomal dominant or… read more here.
Keywords: wars1 cause; wars1; neurodevelopmental syndrome; biallelic variants ... See more keywords
Retinitis Pigmentosa Due to Rp1 Biallelic Variants
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-58243-9
Abstract: In the present study, we screened 529 Brazilian individuals affected by inherited retinal disorders. A total of seven unrelated and nonsyndromic patients with RP1 biallelic variants (OMIM # 180100) were diagnosed in our centre and… read more here.
Keywords: pigmentosa due; biallelic variants; retinitis pigmentosa; due rp1 ... See more keywords
Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy
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DOI: 10.1055/s-0040-1722728
Abstract: Case Report A 32-year-old female with a history of three prior pregnancy losses presented for genetic testing following an ultrasonography diagnosis of fetal hydranencephaly. Baby was born via C-section and was noted to have a… read more here.
Keywords: malformative encephalopathy; phenotype; lamb1 causing; variants lamb1 ... See more keywords
Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2188227
Abstract: BACKGROUND Pathogenic variants in BEST1 can cause autosomal dominant or autosomal recessive dystrophy, typically associated with distinct retinal phenotypes. In heterozygous cases, the disorder is commonly characterized by yellow sub-macular lesions in the early stages,… read more here.
Keywords: phenotype; variants best1; dystrophy; best vitelliform ... See more keywords
Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "International immunology"
DOI: 10.1093/intimm/dxz081
Abstract: Nephrotic syndrome (NS) is a renal disease characterized by severe proteinuria and hypoproteinemia. Although several single-gene mutations have been associated with steroid-resistant NS, causative genes for steroid-sensitive NS (SSNS) have not been clarified. While seeking… read more here.
Keywords: steroid sensitive; biallelic variants; mutations il1rap; variants mutations ... See more keywords
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14165
Abstract: Biallelic variants of the gene encoding for the zinc‐finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study,… read more here.
Keywords: neurodevelopmental disorder; variants znf142; syndromic neurodevelopmental; biallelic variants ... See more keywords
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14359
Abstract: NAA20 is the catalytic subunit of the NatB complex, which is responsible for N-terminal acetylation of approximately 20% of the human proteome. Recently, pathogenic biallelic variants in NAA20 were associated with a novel neurodevelopmental disorder… read more here.
Keywords: novel biallelic; phenotype naa20; naa20 related; biallelic variants ... See more keywords
A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3
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DOI: 10.1212/nxg.0000000000000680
Abstract: Objective In this study, we report the case of a 24-year-old man with intellectual disability and childhood-onset seizures. This patient had newly identified biallelic variants in the laminin subunit gamma 3 (LAMC3) gene with unreported… read more here.
Keywords: malformation; cortical malformation; new case; variants lamc3 ... See more keywords
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice
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DOI: 10.1371/journal.pgen.1010114
Abstract: The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic variants in TRAPPC10, a component of the TRAPP II complex, in… read more here.
Keywords: humans mice; trappc10; biallelic variants; variants trappc10 ... See more keywords
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.783762
Abstract: The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure… read more here.
Keywords: cerebellar atrophy; variants gemin5; gemin5; biallelic variants ... See more keywords