Genome-wide association study of telomere length among South Asians identifies a second RTEL1 association signal

Telomeres are DNA-protein complexes that protect chromosome ends. Leukocyte telomere length (LTL) is a potential biomarker of aging and risk for age-related disease. Prior genome-wide association (GWA) studies have identified 10 inherited genetic variants that influence LTL in populations of European ancestry. However, there is evidence of considerable population differences in LTL. In this GWA […]

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Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly

Bardet-Biedl syndrome (BBS) presents a complex phenotype. We discovered that CEP19 gene is defective in a Pakistani family with many members having postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver. We also found different combinations of modifier alleles […]

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New Bone Dysplasia with Cloudy Cornea and Intellectual Disability caused by homozygous PLCB3 variants

Ben-Salem, Robbins et al. reports a new form of syndromic bone dysplasia in two Emirati first cousins. This new syndrome includes profound limb shortening with spine and pelvis abnormalities, corneal clouding, and intellectual disability. Homozygosity mapping in the family localized the genetic cause to cytogenetic band 11q12.1-q13.1. Whole exome sequencing identified a homozygous variant, c.2632G>T,  […]

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Genome-wide association study identified copy number variants associated with sporadic colorectal cancer risk

Colorectal Cancer (CRC) is the third most frequent cancer worldwide and associated with high mortality. We identified a rare structural or copy number variant region (CNVR) encompassing a chromatin remodeler (CHD8) and two common CNVRs encompassing an anti-phagocytic molecule (CD47) and two members of the RAS superfamily of GTPases (RERG/ARHGDIB) respectively in the human genome […]

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SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

“Methylglutaconic aciduria, Deafness, Encephalopathy, Leigh-like” syndrome (MEGDEL syndrome) is a genetic disease caused by mutations in a gene named SERAC1, which is involved in the metabolism of specific lipids, so-called phosphatidylglycerols. MEGDEL syndrome typically presents with progressive deafness, motor symptoms (i. e. dystonia) and additional features (e. g. neonatal sepsis and liver failure) with onset […]

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CTCF deletion syndrome: clinical features and epigenetic delineation

CTCF has multiple function in epigenetics including X-chromosome inactivation, genomic imprinting and genome organization. Mutations in CTCF are known to cause intellectual disability, however mechanism underlying the disease remains unknown. In this study, we reported two patients with a deletion including CTCF and proposed CTCF deletion syndrome because they showed distinct clinical characteristics icluding intellectual […]

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Genetic Severity Score predicts clinical phenotype in NF2

Individuals affected with Neurofibromatosis type 2 (NF2) typically develop multiple brain and spine tumours, and often lose hearing in young adulthood. The disease course can vary amongst patients and their severity is linked to genetic variations. The NF2 genetic severity score presented here, groups patients using genetic test results. The score separated patients according to […]

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