2024
Clinical and genetic investigation of 14 families with various forms of short stature syndromes
Khan F, Khan H, Ullah K, Nawaz S, Abdullah, Khan M, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan I, Ali R, Hasni M, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack T, Ji W, Lakhani S, Ansar M, Ahmad W. Clinical and genetic investigation of 14 families with various forms of short stature syndromes. Clinical Genetics 2024, 106: 347-353. PMID: 38774940, DOI: 10.1111/cge.14550.Peer-Reviewed Original ResearchSyndromic forms of short statureFamilies of Pakistani originDisease-causing gene variantsSyndromic formsWhole-exome sequencingSequence variantsHomozygosity mappingIdentified genesExome sequencingAutosomal dominant mannerSanger sequencingXRCC4 geneMutation spectrumGenetic etiologyGenetic investigationsLethal defectShort statureGene variantsGenesDominant mannerReduced growthShort stature syndromeHeterogeneous group of disordersSequenceGroup of disorders
2022
TBX5 variant with the novel phenotype of mixed-type total anomalous pulmonary venous return in Holt-Oram Syndrome and variable intrafamilial heart defects
Azab B, Aburizeg D, Ji W, Jeffries L, Isbeih NJ, Al-Akily AS, Mohammad H, Abu Osba Y, Shahin MA, Dardas Z, Hatmal MM, Al-Ammouri I, Lakhani S. TBX5 variant with the novel phenotype of mixed-type total anomalous pulmonary venous return in Holt-Oram Syndrome and variable intrafamilial heart defects. Molecular Medicine Reports 2022, 25: 210. PMID: 35514310, PMCID: PMC9133962, DOI: 10.3892/mmr.2022.12726.Peer-Reviewed Original ResearchConceptsHolt-Oram syndromeMolecular etiologyT-box domainWild-type proteinT-box transcription factorGenetic investigationsTrio-based whole-exome sequencingNonsense variantTranscription factorsIntrafamilial levelTBX5 proteinNovel phenotypesProtein's abilityFirst genetic investigationMutant dimersNon-syndromic presentationsProtein modelingWhole-exome sequencingComplete phenotypingSubsequent genetic investigationsTbx5Novel associationsPowerful approachWide phenotypic spectrumNon-covalent bonds