Compound Heterozygous LTBP2 Mutations Associated With Juvenile-Onset Open-Angle Glaucoma and Marfan-Like Phenotype.
Sign Up to like & getrecommendations! Published in 2023 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2023.1488
Abstract: This case report describes a patient diagnosed at age 13 years with glaucoma who later presented with elevated intraocular pressure, severe cupping, open iridocorneal angle, and lens dislocation. read more here.
Keywords: heterozygous ltbp2; ltbp2 mutations; mutations associated; compound heterozygous ... See more keywords
Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Cellular Biochemistry"
DOI: 10.1002/jcb.29945
Abstract: The peroxisome is responsible for a variety of vital pathways in primary metabolism, including the very long‐chain fatty‐acid oxidation and plasmalogen lipid biosynthesis. Autosomal recessive disorder of the Zellweger spectrum (ZSD) is a major subset… read more here.
Keywords: study; pex1; arg949trp gly970ala; zellweger ... See more keywords
Whole‐exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23074
Abstract: Autosomal recessive Robinow syndrome (ARRS) is a rare genetic disorder, which affects the development of multiple systems, particularly the bones. read more here.
Keywords: exome sequencing; identified compound; whole exome; sequencing identified ... See more keywords
Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of clinical laboratory analysis"
DOI: 10.1002/jcla.23930
Abstract: BACKGROUND Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is occurred by mutations in LAMA2 gene that encodes the laminin α2 chain (merosin). MDC1A is a predominant subtype of congenital muscular dystrophy. Herein, we identified two missense… read more here.
Keywords: merosin; congenital muscular; muscular dystrophy; lama2 gene ... See more keywords
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia
Sign Up to like & getrecommendations! Published in 2021 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13258
Abstract: Compound heterozygous and sometimes homozygous mutations in the DARS2 gene have been described as a cause of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL; Online Mendelian Inheritance in Man: 611105). LBSL… read more here.
Keywords: hereditary spastic; compound heterozygous; walking distance; spastic paraplegia ... See more keywords
Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13725
Abstract: Bi-allelic PRKN variants are involved in 34% to 45% of familial recessive early-onset Parkinson ’ s diseases, 1,2 read more here.
Keywords: prkn compound; two different; heterozygous variants; variants combinations ... See more keywords
Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1494
Abstract: Homozygous or compound heterozygous pathogenic variants in the thromboxane A synthase 1 (TBXAS1) gene are associated with Ghosal hematodiaphyseal dysplasia (GHDD) which is characterized by defective hematopoiesis and increased bone density of long bones. read more here.
Keywords: novel compound; compound heterozygous; hematodiaphyseal dysplasia; ghosal hematodiaphyseal ... See more keywords
Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1620
Abstract: Stickler syndrome (STL) is a clinically variable and genetically heterogeneous collagenopathy characterized by ophthalmic, auditory, skeletal, and orofacial abnormalities. STL is mainly inherited in an autosomal dominant pattern with mutations in the COL2A1, COL11A1, and… read more here.
Keywords: compound heterozygous; autosomal recessive; stickler syndrome; heterozygous mutations ... See more keywords
Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1804
Abstract: BACKGROUND Defects in the RYR1 (OMIM#180901) gene lead to Ryanodine receptor type 1-related myopathies (RYR1-RM); the most common subgroup of congenital myopathies. METHODS Congenital myopathy presents a diagnostic challenge due to the need for multiple… read more here.
Keywords: congenital myopathy; rna sequencing; neonatal brain; intronic variants ... See more keywords
Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome‐9
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2010
Abstract: Succinate‐CoA ligase/synthetase (SCS) deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Variants in SUCLG1, the nuclear gene encoding the alpha subunit of the SCS enzyme playing a pivotal role in… read more here.
Keywords: dna depletion; depletion; depletion syndrome; compound heterozygous ... See more keywords
Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You‐Hoover‐Fong syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.287
Abstract: Very recently, compound heterozygous loss‐of‐function mutations in TELO2 were shown to underlie the newly‐described You‐Hoover‐Fong syndrome. TELO2 forms part of the co‐chaperone triple T complex (TTT complex), which plays an important role in the maturation… read more here.
Keywords: hoover fong; fong syndrome; patient severe; compound heterozygous ... See more keywords