2022
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants
Alkhunaizi E, Martin N, Jelin A, Rosner M, Bailey D, Steiner L, Lakhani S, Ji W, Katzman P, Forster K, Jarinova O, Shannon P, Chitayat D, Consortium C. Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American Journal Of Medical Genetics Part A 2022, 191: 760-769. PMID: 36495114, PMCID: PMC9928776, DOI: 10.1002/ajmg.a.63071.Peer-Reviewed Original ResearchConceptsArthrogryposis multiplex congenitaPathogenic variantsCompound heterozygous pathogenic variantsNext-generation gene sequencingHeterozygous pathogenic variantsSkeletal muscle abnormalitiesVariety of disordersFetal exposureClinical manifestationsPeripheral nervesSpinal cordLive birthsMultiplex congenitaHigh incidenceMuscle abnormalitiesRecurrence riskNeuromuscular junctionPhenotypic presentationSingle gene disordersTTN variantsConnective tissueRecessive variantsRecessive inheritanceObligate carriersMolecular diagnosis
2020
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome
Brodsky NN, Boyarchuk O, Kovalchuk T, Hariyan T, Rice A, Ji W, Khokha M, Lakhani S, Lucas CL. Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. Journal Of Human Genetics 2020, 65: 911-915. PMID: 32435055, DOI: 10.1038/s10038-020-0776-0.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAngiomatosisBrain NeoplasmsCardiomegalyChild, PreschoolExome SequencingFibrosisHeterozygoteHumansIntracellular Signaling Peptides and ProteinsLung DiseasesMaleModels, MolecularNeurodegenerative DiseasesPedigreePoint MutationProtein ConformationProtein DomainsSequence AlignmentSequence Homology, Amino AcidSyndromeConceptsWhole-exome sequencingNovel compound heterozygous variantsCompound heterozygous variantsUkrainian patientsClinical featuresNovel variantsNew patientsHealthy humansCompound heterozygous combinationPatientsHeterozygous variantsSyndromeFinnish childrenNHLRC2Sanger sequencingFibrosisDiseaseGnomAD databaseN-terminal thioredoxinCentral regulatorVariantsNeurodegenerationA novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype
AbuBakr F, Jeffries L, Ji W, McGrath JM, Lakhani SA. A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype. Molecular Case Studies 2020, 6: mcs.a005207. PMID: 32299812, PMCID: PMC7304360, DOI: 10.1101/mcs.a005207.Peer-Reviewed Original ResearchConceptsCardiospondylocarpofacial syndromePathogenic variantsValvular heart diseaseDistinctive cutaneous findingsLikely pathogenic variantsCutaneous findingsFlexion contractureHeart diseaseSecond toePatientsShort statureGrowth factorProtein kinase kinase kinase 7Facial dysmorphismSyndrome phenotypeMissense variantsSyndromeKinase 7Kinase 1Novel variantsSixth variantSplice variantsPhenotypeFrame deletionInflammation