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
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