Cognitive Impairment, Ataxia, Dystonia, and Gaze Palsy Due to a Novel Variant in SQSTM1: New Lessons
Sign Up to like & getrecommendations! Published in 2024 at "Movement Disorders"
DOI: 10.1002/mds.29684
Abstract: Congenital disorders of autophagy comprise genetically and clinically heterogeneous disease entities, which include SQSTM1/p62-associated childhood-onset neurodegeneration (OMIM #601530). 1 We report a novel variant in the SQSTM1 gene and development of a lymphoblastoid cell line… read more here.
Keywords: novel variant; variant sqstm1; gaze palsy;
A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1883
Abstract: Angelman syndrome (AS) is a rare neurodevelopmental disorder and is characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. Although the maternal chromosomal region 15q11.2‐q13 deletion is the most common mechanism… read more here.
Keywords: novel variant; variant ube3a; disability; family multigenerational ... See more keywords
A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2132
Abstract: B‐Cell CLL/Lymphoma 11B (BCL11B) is a C2H2 zinc finger transcription factor that has broad biological functions and is essential for the development of the immune system, neural system, cardiovascular system, dermis, and dentition. Variants of… read more here.
Keywords: novel variant; bcl11b individual; neurodevelopmental delay; individual neurodevelopmental ... See more keywords
A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.2197
Abstract: BACKGROUND The congenital disorder of glycosylation associated with ALG1 (ALG1-CDG) is a rare autosomal recessive disease. Due to the deficiency of β1,4 mannosyltransferase caused by pathogenic variants in ALG1 gene, the assembly and processing of… read more here.
Keywords: novel variant; glycosylation; alg1 gene; literature ... See more keywords
Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung’s disease
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric Surgery International"
DOI: 10.1007/s00383-017-4134-z
Abstract: AbstractPurposeHirschsprung’s disease (HSCR) is a congenital disorder of the enteric nervous system characterized by the absence of ganglion cells in the Auerbach’s and Meissner’s plexuses. Although about 7% of cases are hereditary, the causal mutations… read more here.
Keywords: novel family; novel variant; disease; family ... See more keywords
Identification of a novel variant of Golli myelin basic protein BG21 in the uniquely neuroprotective white-footed mouse
Sign Up to like & getrecommendations! Published in 2019 at "Neuroscience Letters"
DOI: 10.1016/j.neulet.2019.02.006
Abstract: The myelin basic protein (MBP) gene is a complex gene which codes for several distinct forms of MBP. The various forms of MBP are functionally involved in the development of the nervous system, T-cell regulation,… read more here.
Keywords: novel variant; myelin basic; footed mouse; white footed ... See more keywords
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-00988-6
Abstract: Craniosynostosis is a birth defect occurring in approximately one in 2000 live births, where premature fusion of the cranial bones inhibits growth of the skull during critical periods of brain development. The resulting changes in… read more here.
Keywords: fuz arg284pro; gene; novel variant; craniosynostosis ... See more keywords
A novel variant in LCHGR gene in 3 siblings with type 1 Leydig cell hypoplasia
Sign Up to like & getrecommendations! Published in 2020 at "Gynecological Endocrinology"
DOI: 10.1080/09513590.2020.1789859
Abstract: Abstract Introduction Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorder. The patients with LCH are usually in the female phenotype and are presented with the complaints of… read more here.
Keywords: leydig cell; primary amenorrhea; novel variant; female phenotype ... See more keywords
A novel variant with a severe phenotype in CARD14-associated papulosquamous eruption successfully treated with ixekizumab.
Sign Up to like & getrecommendations! Published in 2024 at "Clinical and experimental dermatology"
DOI: 10.1093/ced/llae019
Abstract: CARD14-associated papulosquamous eruption (CAPE) is an autosomal dominant disorder characterized by early onset of symptoms, prominent facial involvement, clinicalmanifestations resembling both psoriasis and pityriasis rubra pilaris(PRP), and limited response to conventional topical and systemic therapies… read more here.
Keywords: associated papulosquamous; card14; papulosquamous eruption; novel variant ... See more keywords
A novel F8 variant in a Chinese hemophilia A family and involvement of X-chromosome inactivation: A case report
Sign Up to like & getrecommendations! Published in 2023 at "Medicine"
DOI: 10.1097/md.0000000000033665
Abstract: Rationale: Hemophilia A (HA) is an X-linked recessive bleeding disorder, which shows factor VIII (FVIII) deficiency caused by genetic variant in F8 gene. Patient concerns: Males with F8 variants are affected, whereas female carriers with… read more here.
Keywords: chromosome inactivation; chromosome; novel variant; fviii levels ... See more keywords
Congenital ataxia due to novel variant in ATP8A2
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.13954
Abstract: Congenital ataxias are a heterogeneous group of disorders characterized by congenital or early‐onset ataxia. Here, we describe two siblings with congenital ataxia, who acquired independent gait by age 4 years. After 16 years of follow‐up they presented… read more here.
Keywords: ataxia due; congenital ataxia; novel variant; due novel ... See more keywords