2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Cali E, Suri M, Scala M, Ferla M, Alavi S, Faqeih E, Bijlsma E, Wigby K, Baralle D, Mehrjardi M, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov D, Jacober J, Littlejohn R, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Silfhout A, Herenger Y, Dehghani M, Seyedhassani S, Bahreini A, Nasab M, Ercan-Sencicek A, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani E, Salpietro V, Taylor J, Redman M, Stegmann A, Laner A, Abdel-Salam G, Li M, Bengala M, Müller A, Digilio M, Rauch A, Gunel M, Titheradge H, Schweitzer D, Kraus A, Valenzuela I, McLean S, Phornphutkul C, Salih M, Begtrup A, Schnur R, Torti E, Haack T, Prada C, Alkuraya F, Houlden H, Maroofian R. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genetics In Medicine 2022, 25: 135-142. PMID: 36399134, PMCID: PMC10620944, DOI: 10.1016/j.gim.2022.09.016.Peer-Reviewed Original ResearchConceptsShort statureClinical characteristicsSyndromic neurodevelopmental disorderNeurodevelopmental disordersSevere developmental delay/intellectual disabilityPhenotypic spectrumDetailed clinical characteristicsDevelopmental delay/intellectual disabilityMain clinical characteristicsProminent supraorbital ridgesThin upper lipBroad nasal tipProtein arginine methyltransferase 7Endocrine abnormalitiesEye abnormalitiesClinical informationIntellectual developmental disabilitiesPathogenic variantsShort noseVariable findingsNatural historyBifrontal narrowingNasal tipUpper lipLower lip
2016
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El.Meguid N, Masri A, Ali R, Ben-Omran T, El.Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Molecular Psychiatry 2016, 22: 615-624. PMID: 27431290, DOI: 10.1038/mp.2016.113.Peer-Reviewed Original ResearchConceptsStandard clinical evaluationDiagnostic yieldFirst-tier testExome sequencingClinical evaluationIntellectual disabilityHigh diagnostic yieldLikely pathogenic variantsMulti-gene panelStudy cohortLikely diagnosisTreatable formID subjectsDe novo dominantPathogenic variantsHomozygous mutationRecessive variantsLines of evidencePoint mutationsCandidate genesNovel candidate genesCohortDiagnosisLikely causal variantsHigh consanguinity