A Recurrent EIF2AK2 Missense Variant Causes Autosomal‐Dominant Isolated Dystonia
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Neurology"
DOI: 10.1002/ana.26081
Abstract: A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia Thomas Musacchio, MD, Michael Zech, MD , Martin M. Reich, MD, Juliane Winkelmann, MD,2,3,4,5‡ and Jens Volkmann, MD1‡ We read with interest the article by Kuipers… read more here.
Keywords: 388g gly130arg; recurrent eif2ak2; eif2ak2 missense; missense variant ... See more keywords
A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26297
Abstract: With great interest we read the study of Schob et al in Annals of Neurology identifying 6 dominantly inherited or de novo KPNA3 mutations, in 8 patients from 5 families. In doing so, they implicate… read more here.
Keywords: kpna3; spastic paraplegia; missense variant;
An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.23976
Abstract: The human TRMT1 gene encodes an RNA methyltransferase enzyme responsible for catalyzing dimethylguanosine (m2,2G) formation in transfer RNAs (tRNAs). Frameshift mutations in TRMT1 have been shown to cause autosomal‐recessive intellectual disability (ID) in the human… read more here.
Keywords: intellectual disability; trmt1; trna modification; missense variant ... See more keywords
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.682
Abstract: Coffin–Siris syndrome (CSS) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes. CSS is caused by mutations in several genes of the BRG1‐associated factor pathway including SMARCA4. read more here.
Keywords: individual carrying; novo missense; missense variant; retinal dystrophy ... See more keywords
A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.902
Abstract: Jalili syndrome (JS) is a rare cone‐rod dystrophy (CRD) associated with amelogenesis imperfecta (AI). The first clinical presentation of JS patients was published in 1988 by Jalili and Smith. Pathogenic mutations in the Cyclin and… read more here.
Keywords: pathogenic missense; jalili syndrome; novel pathogenic; variant cnnm4 ... See more keywords
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.969
Abstract: The bone morphogenetic protein (BMP) pathway is known to play an imperative role in bone, cartilage, and cardiac tissue formation. Truncating, heterozygous variants, and deletions of one of the essential receptors in this pathway, Bone… read more here.
Keywords: variant bmpr1a; bmpr1a resulting; homozygous missense; bmpr1a ... See more keywords
A novel T177P missense variant in the HSPA8 gene associated with the low tolerance of Awassi sheep to heat stress
Sign Up to like & getrecommendations! Published in 2020 at "Tropical Animal Health and Production"
DOI: 10.1007/s11250-020-02267-w
Abstract: This study was conducted to identify the association of coding variations in the HSPA8 gene with heat stress in two different breeds of sheep. All the coding regions of the HSPA8 gene of Awassi and… read more here.
Keywords: hspa8 gene; t177p; missense variant; heat ... See more keywords
A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Molecular Neuroscience"
DOI: 10.1007/s12031-019-01398-6
Abstract: Schindler disease is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in alpha-N-acetylgalactosaminidase (α-NAGA) activity due to defects in the NAGA gene. Accumulation of the enzyme’s substrates results in clinically heterogeneous symptoms… read more here.
Keywords: extreme intrafamilial; naga gene; disease; missense variant ... See more keywords
L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant
Sign Up to like & getrecommendations! Published in 2021 at "Reproductive Sciences"
DOI: 10.1007/s43032-021-00828-4
Abstract: L1 syndrome, a complex X-linked neurological disorder, is caused by mutations in the L1 cell adhesion molecule (L1CAM) gene. L1CAM molecule is a member of immunoglobulin (Ig) superfamily of neural cell adhesion molecules (CAMs), which… read more here.
Keywords: l1cam gene; gene; missense variant;
A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103969
Abstract: We describe a three year old female who underwent clinical exome sequencing and was diagnosed with BCL11A-related intellectual disability/Dias-Logan syndrome due to a de novo, heterozygous variant in the BCL11A gene, NM_018014.3:c.148C > T; p.(Gln50*). A missense… read more here.
Keywords: intellectual disability; related intellectual; missense variant; secondary finding ... See more keywords
Missense variant in insulin receptor (Y1355H) segregates in family with fatty liver disease
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Metabolism"
DOI: 10.1016/j.molmet.2021.101299
Abstract: A missense variant in the cytoplasmic domain of the insulin receptor (INSR) was identified by exome sequencing in affected members of a four-generation family with fatty liver disease (FLD). The variant (rs766457461, c.4063T>C, p.Y1355H) results… read more here.
Keywords: insulin; family; y1355h; insulin receptor ... See more keywords