2024
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings
Cissé L, Bamba S, Diallo S, Ji W, Dembélé M, Yalcouyé A, Coulibaly T, Traoré I, Jeffries L, Diarra S, Maiga A, Diallo S, Nimaga K, Touré A, Traoré O, Kotioumbé M, Mis E, Cissé C, Guinto C, Fischbeck K, Khokha M, Lakhani S, Landouré G. Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings. Frontiers In Neurology 2024, 15: 1455467. PMID: 39385815, PMCID: PMC11461190, DOI: 10.3389/fneur.2024.1455467.Peer-Reviewed Original ResearchWhole-exome sequencingACMG criteriaProgressive myoclonic epilepsyProtein 3D structuresHomozygous missense variantRecessive inheritance patternCADD scoresAutosomal recessive inheritance patternSequence variantsMissense variantsGenomic researchExome sequencingGenetic analysisGenetic studiesPathogenic variantsPedigree analysisGenetic epidemiologyGenetic researchGenetic profileHeterogeneous neurological disordersInheritance patternSporadic formsACMGGroup of neurological disordersMyoclonic epilepsyUnraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan
Azab B, Aburizeg D, Shaaban S, Ji W, Mustafa L, Isbeih N, Al-Akily A, Mohammad H, Jeffries L, Khokha M, Lakhani S, Al-Ammouri I. Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan. Scientific Reports 2024, 14: 15141. PMID: 38956129, PMCID: PMC11219879, DOI: 10.1038/s41598-024-64921-9.Peer-Reviewed Original ResearchConceptsExome sequencingSarcomere-related genesMitochondrial-related diseasesAt-risk family membersGenetic architectureGenetic landscapePathogenic variantsGene panelPediatric cardiomyopathyMolecular underpinningsGenetic testingPhenocopiesSarcomeric cardiomyopathiesGenesSequenceStorage disorderFamily membersAt-riskVariantsEarly interventionExomeFamilyGlycogen storage disorderHypertrophic cardiomyopathyCardiomyopathy
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
A 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