VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19

Hadar, Noam; Dolgin, Vadim; Oustinov, Katya; Yogev, Yuval; Poleg, Tomer; Safran, Amit; Freund, Ofek; Agam, Nadav; Jean, Matan M.; Proskorovski-Ohayon, Regina; Wormser, Ohad; Drabkin, Max; Halperin, Daniel; Eskin-Schwartz, Marina; Narkis, Ginat; Sued-Hendrickson, Sufa; Aminov, Ilana; Gombosh, Maya; Aharoni, Sarit; Birk, Ohad S.

doi:10.1007/s00439-024-02671-4

Hum. Genet.

2024

DOI: 10.1007/s00439-024-02671-4

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VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19

Noam Hadar,

Vadim Dolgin,

Katya Oustinov

et al.

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Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway

Gombosh,

Proskorovski-Ohayon,

Yogev

et al. 2024

J Med Genet

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BackgroundDevelopmental dysplasia of the hip (DDH), formerly termed congenital dislocation of the hip, is the most common congenital disease of the musculoskeletal system in newborns. While familial predilection to DDH has been well documented, the molecular genetics/pathways of this common disorder are poorly understood.MethodsLinkage analysis and whole exome sequencing; real-time PCR studies of skin fibroblasts.ResultsConsanguineous Bedouin kindred presented with DDH with apparent autosomal recessive heredity. Linkage analysis and whole exome sequencing delineated a single 3.2 Mbp disease-associated chromosome 1 locus (maximal multipoint Logarithm of the Odds score 2.3), containing a single homozygous variant with a relevant expression pattern: addition of threonine in TRIM33 (NM_015906.4); c.1648_1650dup.TRIM33encodes a protein that acts both in the TGF-β and the BMP pathways; however, it has been mostly studied regarding its function in the TGF-β pathway. Since BMPs are known to act in bone formation, we focused on the BMP pathway, in which TRIM33 functions as a transcription factor, both an activator and repressor. Skin fibroblasts of two affected girls and a heterozygousTRIM33variant carrier were assayed through reverse-transcription PCR for expression of genes known to be downstream of TRIM33 in the BMP pathway: fibroblasts of affected individuals showed significantly reduced expression ofDLX5, significantly increased expression ofBGLAP, increased expression ofALPLand no change in expression ofRUNX2or ofTRIM33itself.ConclusionsDDH can be caused by a biallelic variant inTRIM33, affecting the BMP pathway.

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Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway

Gombosh,

Proskorovski-Ohayon,

Yogev

et al. 2024

J Med Genet

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show abstract

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VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19

Cited by 1 publication

References 41 publications

Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway

Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway

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