Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia
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چکیده
منابع مشابه
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
In a subset of inherited retinal degenerations (including cone, cone-rod, and macular dystrophies), cone photoreceptors are more severely affected than rods; ABCA4 mutations are the most common cause of this heterogeneous class of disorders. To identify retinal-disease-associated genes, we performed exome sequencing in 28 individuals with "cone-first" retinal disease and clinical features atypi...
متن کاملBiallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.
The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of DNA damage by homologous recombination (HR). Here we have shown that an RFWD3 mutation within the WD40 domain is connected to the genetic disease Fanconi anemia (FA). An individual presented with congenital abnormalities characteristic of FA. Cells from the patient carrying the compound heterozygous mutation...
متن کاملBiallelic TOR1A variants in an infant with severe arthrogryposis
DYT1 early-onset primary dystonia (DYT1) is a well-described dystonia caused by an in-frame GAG nucleotide deletion in the TOR1A gene, c.907_909delGAG. The only phenotype linked to TOR1A is dystonia. Homozygous GAG deletions or compound heterozygosity for mutations in TOR1A have never been reported in humans. Arthrogryposis, defined as multiple congenital contractures, affects 1 in 3,000–5,000 ...
متن کاملBiallelic mutations in BRCA1 cause a new Fanconi anemia subtype.
UNLABELLED Deficiency in BRCA-dependent DNA interstrand crosslink (ICL) repair is intimately connected to breast cancer susceptibility and to the rare developmental syndrome Fanconi anemia. Bona fide Fanconi anemia proteins, BRCA2 (FANCD1), PALB2 (FANCN), and BRIP1 (FANCJ), interact with BRCA1 during ICL repair. However, the lack of detailed phenotypic and cellular characterization of a patient...
متن کاملBiallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.
BACKGROUND Cardiomyopathies are usually inherited and predominantly affect adults, but they can also present in childhood. Although our understanding of the molecular basis of pediatric cardiomyopathy has improved, the underlying mechanism remains elusive in a substantial proportion of cases. OBJECTIVES This study aimed to identify new genes involved in pediatric cardiomyopathy. METHODS The...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2019
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-019-0427-0