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   Articles with "biallelic variants" as a keyword



Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome

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recommendations! Published in 2024 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51980

Abstract: COXPD23 is a rare mitochondrial disease caused by biallelic pathogenic variants in GTPBP3. We report on two siblings with a mild phenotype. read more here.

Keywords: new patients; variants gtpbp3; phenotypic spectrum; biallelic variants ... See more keywords

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

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recommendations! 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

Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia

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recommendations! Published in 2025 at "Movement Disorders Clinical Practice"

DOI: 10.1002/mdc3.70092

Abstract: Spastic ataxia type 5 (SPAX5) is a rare autosomal recessive neurodegenerative disorder caused by biallelic variants in the AFG3L2 gene. It is characterized by spasticity, cerebellar ataxia, dystonia, and myoclonic epilepsy. read more here.

Keywords: type spax5; ataxia; ataxia type; variants afg3l2 ... See more keywords
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Retinitis Pigmentosa Due to Rp1 Biallelic Variants

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recommendations! 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
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Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

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recommendations! Published in 2021 at "AJP Reports"

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.

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recommendations! 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.

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recommendations! 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

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recommendations! 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.

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recommendations! 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

The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants

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recommendations! Published in 2024 at "Clinical Genetics"

DOI: 10.1111/cge.14587

Abstract: ANK3 encodes ankyrin‐G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin‐G isoforms comprising different domains with distinct expression patterns. Mono‐ or biallelic ANK3 variants are associated with non‐specific… read more here.

Keywords: ank3; phenotypic genotypic; mono biallelic; biallelic ank3 ... See more keywords

Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants

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recommendations! Published in 2024 at "Lipids in Health and Disease"

DOI: 10.1186/s12944-024-02086-0

Abstract: Background Lipoprotein lipase (LPL) plays a crucial role in triglyceride hydrolysis. Rare biallelic variants in the LPL gene leading to complete or near-complete loss of function cause autosomal recessive familial chylomicronemia syndrome. However, rare biallelic… read more here.

Keywords: lpl; loss; lipoprotein lipase; function ... See more keywords