Identification of a novel missense mutation in Friedreich's ataxia –FXNW 168R
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.728
Abstract: Friedreich's ataxia, characterized by decreased expression of frataxin protein, is caused by GAA trinucleotide repeats within intron 1 in 98% of patients. Two percent of patients carry GAA repeats in conjunction with a point mutation.… read more here.
Keywords: novel missense; friedreich ataxia; missense mutation; identification novel ... See more keywords
Identification and clinical characteristics of a novel missense ADGRG1 variant in bilateral Frontoparietal Polymicrogyria: The electroclinical change from infancy to adulthood after Callosotomy in three siblings
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia Open"
DOI: 10.1002/epi4.12685
Abstract: Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic‐related migration disorder. It has been attributed to loss‐of‐function of the ADGRG1 gene, which encodes an adhesion G protein‐coupled receptor, ADGRG1/GPR56. We report the EEG findings of BFPP… read more here.
Keywords: frontoparietal polymicrogyria; novel missense; bilateral frontoparietal; adgrg1 ... See more keywords
A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report
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DOI: 10.1007/s10072-018-3596-7
Abstract: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disease, caused by mutations in ABCD1, a gene located on the X chromosome that codes for adrenoleukodystrophy protein (ALDP) [1], which belongs to the adenosine triphosphate (ATP)… read more here.
Keywords: ald; novel missense; linked adrenoleukodystrophy; abcd1 gene ... See more keywords
A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC
Sign Up to like & getrecommendations! Published in 2020 at "Neurological Sciences"
DOI: 10.1007/s10072-020-04595-z
Abstract: The purpose of this research is to explore the underlying genes of Charcot-Marie-Tooth (CMT). Technologies such as electrophysiological testing and gene sequencing have been applied. We identified a novel variant NEFH c.2215C>T(p.P739S)(HGNC:7737) in a heterozygous… read more here.
Keywords: novel missense; missense pathogenic; variant nefh; pathogenic variant ... See more keywords
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy
Sign Up to like & getrecommendations! Published in 2020 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-020-01527-8
Abstract: Muscular dystrophy-dystroglycanopathies are autosomal recessive neurologic disorders, caused by homozygous or compound heterozygous mutations in the POMGNT1 gene-encoding protein O-mannose beta-1,2-N-acetylglucosaminyl transferase. This type of muscular dystrophy is characterized by early-onset muscle weakness, gait ataxia,… read more here.
Keywords: novel missense; missense 386g; muscular dystrophy; boy ... See more keywords
A novel missense mutation p.S305R of EDA gene causes XLHED in a Chinese family.
Sign Up to like & getrecommendations! Published in 2019 at "Archives of oral biology"
DOI: 10.1016/j.archoralbio.2019.104507
Abstract: X-linked hypohidrotic ectodermal dysplasia (XLHED) can be characterized by hypohidrosis, sparse hair, hypodontia, and characteristic facial features and is usually caused by mutations of ectodysplasin A (EDA) gene located on the X chromosome. In this… read more here.
Keywords: missense mutation; novel missense; eda gene; mutation ... See more keywords
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-019-57374-y
Abstract: Mutations in the FKBP14 gene encoding FKBP22 (FK506 Binding Protein 22 kDa) cause kyphoscoliotic Ehlers-Danlos Syndrome (kEDS). The first clinical report showed that a lack of FKBP22 protein due to mutations causing nonsense-mediated decay of the… read more here.
Keywords: met48lys fkbp22; novel missense; mutation met48lys; missense mutation ... See more keywords
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2022.2068038
Abstract: BACKGROUND In contrast to the classic autosomal recessive Wolfram syndrome, Wolfram-like syndrome (WLS) is an autosomal dominant disease caused by heterozygous variants in the WFS1 gene. Here, we present deep phenotyping of a mother and… read more here.
Keywords: wolfram; wfs1 variant; wolfram syndrome; novel missense ... See more keywords
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C
Sign Up to like & getrecommendations! Published in 2020 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a005165
Abstract: Pathogenic variants in the XPC complex subunit, DNA damage recognition, and repair factor (XPC) are the cause of xeroderma pigmentosum, group C (MIM: 278720). Xeroderma pigmentosum is an inherited condition characterized by hypersensitivity to ultraviolet… read more here.
Keywords: novel missense; xeroderma pigmentosum; deletion; pigmentosum group ... See more keywords
A novel missense variant in endothelin‐2 (EDN2) causes a growth and respiratory lethal syndrome in bovine
Sign Up to like & getrecommendations! Published in 2022 at "Animal Genetics"
DOI: 10.1111/age.13246
Abstract: Abstract The high level of fragmentation of the Spanish Lidia cattle breed, divided into lineages called ‘castas’ and into herds within lineages based on reproductive isolation, increases the risk of homozygosity and the outbreak of… read more here.
Keywords: novel missense; respiratory lethal; growth; variant ... See more keywords
Identification of a novel missense variant (c.911G>A, p. Ser304Asn) in ABO gene in a Tibetan individual
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DOI: 10.1111/trf.17248
Abstract: The ABO system is the most important blood system in transfusion medicine, which contains four major ABO phenotypes: A, B, O, and AB. Some variants in the ABO gene may lead to weak A or… read more here.
Keywords: novel missense; missense variant; abo; gene tibetan ... See more keywords