European Journal of Medical Genetics
Papers 1979
1 page of 198 pages (1,979 results)
#1Hela Bellil (UVSQ: Versailles Saint-Quentin-en-Yvelines University)
#2D. Molina-Gomes (UVSQ: Versailles Saint-Quentin-en-Yvelines University)H-Index: 7
Last. Bérénice Hervé (UVSQ: Versailles Saint-Quentin-en-Yvelines University)H-Index: 3
view all 7 authors...
Abstract In recent years, the introduction of novel genome analysis technologies (such as array comparative genomic hybridization) has enabled the prenatal diagnosis of various recurrent copy number variations (CNVs). Some of these CNVs have been linked to a greater susceptibility of developmental and neuropsychiatric disorders; for example, recurrent duplication at the 2q13 locus is associated with developmental delay, dysmorphism and intellectual disability. However, this CNV has low penetranc...
Abstract Dyment et al. (2019) recently reported eight novel patients with intellectual disability and epilepsy associated with heterozygous de novo missense variants in TRPM3. We report a novel patient with the same recurrent de novo missense of TRPM3 found in seven of these eight cases, p.(Val837Met), but with a slightly different phenotype.
Abstract Congenital disorder of N-linked deglycosylation (CDDG, MIM 615273) is a very rare autosomal recessive disorder caused by pathogenic variants in the NGLY1 gene. Transient transaminitis is the typical hepatic dysfunction described in these patients, but also included neonatal jaundice, hepatomegaly, splenomegaly, and steatosis. Microscopically, intrahepatic cytoplasmic inclusions and fibrosis are seen. We report a five-year-old male patient who presented a severe episode of acute liver fa...
#1Martin Bezdíčka (Charles University in Prague)H-Index: 1
#2Petr Pavlicek (Charles University in Prague)H-Index: 1
Last. Jakub Zieg (Charles University in Prague)H-Index: 6
view all 5 authors...
Abstract Atypical haemolytic uraemic syndrome and steroid-resistant nephrotic syndrome are highlyrare kidney diseases that can occur in childhood. In some cases, genetic variants may trigger these conditions, although in atypical haemolytic uraemic syndrome they mostly confer only a predisposition to the disease. Most variants causing atypical haemolytic uraemic syndrome were identified in genes encoding proteins regulating the complement pathway; on the other hand, there are approximately 58 ge...
#1Amir Hayat (AWKUM: Abdul Wali Khan University Mardan)
#2Shabir Hussain (QAU: Quaid-i-Azam University)H-Index: 2
Last. Jia Nee Foo (NUS: National University of Singapore)
view all 18 authors...
Abstract Osteogenesis imperfecta (OI) is an inherited heterogeneous rare skeletal disorder characterized by increased bone fragility and low bone mass. The disorder mostly segregates in an autosomal dominant manner. However, several rare autosomal recessive and X-linked forms, caused by mutations in 18 different genes, have also been described in the literature. Here, we present five consanguineous families segregating OI in an autosomal recessive pattern. Affected individuals in the five famili...
#1Rodrigo Tzovenos Starosta (UFRGS: Universidade Federal do Rio Grande do Sul)
#2Jessica M. Tarnowski (Mayo Clinic)
Last. Eva Morava (Mayo Clinic)H-Index: 42
view all 6 authors...
Abstract Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant syndrome of developmental delay, cortical vision loss with optic nerve atrophy, epilepsy, and autism spectrum disorder. Due to its many overlapping features with congenital disorders of glycosylation (CDG), the differential diagnosis between these disorders may be difficult and relies on molecular genetic testing. We report on a 31-year-old female initially diagnosed with ALG6-CDG based on g...
#1Kritioti Evie (The Cyprus Institute of Neurology and Genetics)
#2Theodosiou Athina (The Cyprus Institute of Neurology and Genetics)
Last. Tanteles A George (The Cyprus Institute of Neurology and Genetics)
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Abstract Steel syndrome is an autosomal recessive disorder that primarily affects the skeletal system causing a variety of manifestations. Sixteen individuals with Steel syndrome, mainly Puerto Ricans (11/16), were previously reported to carry bi-allelic mutations in the COL27A1 gene. Here, we present the first patient with Steel syndrome in Europe and the sixth non-Puerto Rican carrying a novel homozygous mutation in COL27A1. The patient is a 4-year-old boy born to non-consanguineous healthy pa...
#1Esther Cross (Salisbury District Hospital)
#2Philippa J Duncan-Flavell (Salisbury District Hospital)
Last. David J. Bunyan (Salisbury District Hospital)H-Index: 25
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Pathogenic variants within PAX6 are most often associated with aniridia, but have been linked with other phenotypes such as nystagmus, cataracts and foveal hypoplasia. Data are presented from a large cohort of 434 probands referred for PAX6 diagnostic testing. This analysis identified a wide range of pathogenic variants (n=145) in 254 probands (including 61 novel variants). Excluding missense variants predicted to affect splicing, all 29 of the remaining missense variants were located within the...
#1Lucia Laugwitz (University of Tübingen)H-Index: 1
#2Rebecca Buchert (University of Tübingen)H-Index: 8
Last. Ingeborg Krägeloh-Mann (University of Tübingen)H-Index: 46
view all 11 authors...
Abstract Pontocerebellar hypoplasia (PCH) comprises a clinically and genetically heterogeneous group of disorders characterized by hypoplasia and degeneration of the cerebellum and ventral pons. To date at least 18 different clinical subtypes of PCH associated with pathogenic variants in 19 different genes have been described. Only recently, bi-allelic variants in TBC1D23 have been reported as the underlying molecular defect in seven index cases with a suspected non-degenerative form of PCH, PCH...
#1Chaoping Hu (Fudan University)H-Index: 1
#2Xihua Li (Fudan University)H-Index: 1
Last. Yi Wang (Fudan University)H-Index: 11
view all 7 authors...
Mitochondrial disorders (MDs) are genetic ailments affecting all age groups. Epidemiological data and frequencies of gene mutations in pediatric patients in China are scarce. This retrospective study assessed 101 patients with suspected MDs treated at the Neurology Department of Children's Hospital, Fudan University, in 2011-2017. Mitochondrial (mtDNA) and nuclear (nDNA) samples were assessed by long-range polymerase chain reaction (PCR)-based whole mtDNA sequencing and whole exome sequencing (W...
Top fields of study
Dominance (genetics)