Nance–Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation
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DOI: 10.1002/mgg3.2100
Abstract: Nance–Horan syndrome (NHS) is a rare and often overlooked X‐linked dominant disorder characterized by dense congenital cataracts, dental abnormalities, and mental retardation. The majority of NHS variations include frameshift mutations, nonsense mutations, microdeletions, and insertions. read more here.
Keywords: horan syndrome; syndrome pedigree; nance horan; pedigree due ... See more keywords
Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-020-00792-9
Abstract: Haploinsufficiency of A20 (HA20) is a newly described immune dysregulation disease due to the loss-of-function mutation in TNFAIP3. In the present study, we report six patients from four unrelated Chinese families with distinct pathogenic mutations… read more here.
Keywords: a20 due; due novel; a20; haploinsufficiency a20 ... See more keywords
Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1715113
Abstract: Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presents an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated with… read more here.
Keywords: ocular syndrome; xylt2; due novel; syndrome due ... See more keywords
ALS due to a novel TBK1 mutation in Brazil
Sign Up to like & getrecommendations! Published in 2022 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2022.2028169
Abstract: Abstract TANK-binding kinase 1 (TBK1) gene mutations cause ALS and frontotemporal dementia (FTD). We report a novel TBK1 mutation in a Brazilian patient with ALS. Symptoms started at age 44 (lower-limb onset). Despite treatment with… read more here.
Keywords: tbk1 mutation; mutation brazil; als due; novel tbk1 ... See more keywords
Congenital ataxia due to novel variant in ATP8A2
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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
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD
Sign Up to like & getrecommendations! Published in 2018 at "Acta Neuropathologica Communications"
DOI: 10.1186/s40478-018-0595-0
Abstract: Few genes (RYR1, NEB, ACTA1, CFL2, KBTBD13) have been associated with core-rod congenital myopathies [7]. KBTBD13 belongs to the Kelch-repeat super-family of proteins and is implicated in the ubiquitination pathway. Dominant mutations in KBTBD13 have… read more here.
Keywords: rod myopathy; novel mutation; due novel; rod ... See more keywords
An Indian Child with CONDSIAS Due to a Novel Variant in ADPRHL2 Gene
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_558_22
Abstract: A male child of South‐Asian descent, the first issue of a nonconsanguineous union, presented to us at 10.5 years age. The child was born full term, without any significant perinatal red flags. Frequent falls and… read more here.
Keywords: child condsias; years age; indian child; child ... See more keywords