Categoría: JMG
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Association between genetic polymorphisms and risk of adolescent idiopathic scoliosis in case-control studies: a systematic review
Background Adolescent idiopathic scoliosis (AIS) is a structural lateral spinal curvature of ≥10° with rotation. Approximately 2%–3% of children across populations are affected with AIS, and this condition is responsible for ~$3 billion i…
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TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy
TBX20 encodes a cardiac transcription factor that is associated with atrial septal defects. Recent studies implicate loss-of-function TBX20 variants with left ventricular non-compaction cardiomyopathy (LVNC), although clinical and genetic data in fa…
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Recurrent BRCA2 exon 3 deletion in Assyrian families
We identified six patients from five families with a recurrent mutation: NM_000059.3 (BRCA2) exon 3 deletion. All families self-identified as Assyrian. Assyrians are an ethnoreligious population of ancient Mesopotamia, now mostly living in modern day …
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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
Background Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the ZNF148 gene causing GDACCF syndrome (global developmental delay, absent or hypoplastic cor…
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Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative individuals recruited to the 100 000 Genomes Project
Hereditary haemorrhagic telangiectasia (HHT) is diagnosed clinically by the Curacao Criteria of spontaneous recurrent nosebleeds, mucocutaneous telangiectasia at characteristic sites, visceral involvement (arteriovenous malformations (AVMs); gastroint…
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Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer
Background Low-impact genetic variants identified in population-based genetic studies are not routinely measured as part of clinical genetic testing in familial breast cancer (BC). We studied the consequences of integrating an established Polygenic Ri…
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Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction
Background Mitral annular disjunction (MAD) is an under-recognised phenotype associated with severe ventricular arrhythmias. Limited knowledge has been gained on its molecular genesis. Methods A total of 150 unrelated deceased Chinese were collected …
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SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice
Background Otosclerosis is a common cause of adult-onset progressive hearing loss, affecting 0.3%–0.4% of the population. It results from dysregulation of bone homeostasis in the otic capsule, most commonly leading to fixation of the stapes bone…