Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Cali Elisa, Suri Mohnish, Scala Marcello, Ferla Matteo P, Alavi Shahryar, Faqeih Eissa Ali, Bijlsma Emilia K, Wigby Kristen M, Baralle Diana, Mehrjardi Mohammad Y V, Schwab Jennifer, Platzer Konrad, Steindl Katharina, Hashem Mais, Jones Marilyn, Niyazov Dmitriy M, Jacober Jennifer, Littlejohn Rebecca Okashah, Weis Denisa, Zadeh Neda, Rodan Lance, Goldenberg Alice, Lecoquierre François, Dutra-Clarke Marina, Horvath Gabriella, Young Dana, Orenstein Naama, Bawazeer Shahad, Vulto-van Silfhout Anneke T, Herenger Yvan, Dehghani Mohammadreza, Seyedhassani Seyed Mohammad, Bahreini Amir, Nasab Mahya E, Ercan-Sencicek A Gulhan, Firoozfar Zahra, Movahedinia Mojtaba, Efthymiou Stephanie, Striano Pasquale, Karimiani Ehsan Ghayoor, Salpietro Vincenzo, Taylor Jenny C, Redman Melody, Stegmann Alexander P A, Laner Andreas, Abdel-Salam Ghada, Li Megan, Bengala Mario, Müller Amelie Johanna, Digilio Maria C, Rauch Anita, Gunel Murat, Titheradge Hannah, Schweitzer Daniela N, Kraus Alison, Valenzuela Irene, McLean Scott D, Phornphutkul Chanika, Salih Mustafa, Begtrup Amber, Schnur Rhonda E, Torti Erin, Haack Tobias B, Prada Carlos E, Alkuraya Fowzan S, Houlden Henry, Maroofian Reza
Аннотация
METHODS: We assembled a cohort of 51 affected individuals from 39 different families, gathering clinical information from 36 newly described affected individuals and reviewing data of 15 individuals from the literature.
RESULTS: The main clinical characteristics of the PRMT7-related syndrome are short stature, mild to severe developmental delay/intellectual disability, hypotonia, brachydactyly, and distinct facial morphology, including bifrontal narrowing, prominent supraorbital ridges, sparse eyebrows, short nose with full/broad nasal tip, thin upper lip, full and everted lower lip, and a prominent or squared-off jaw. Additional variable findings include seizures, obesity, nonspecific magnetic resonance imaging abnormalities, eye abnormalities (i.e., strabismus or nystagmus), and hearing loss.
CONCLUSION: This study further delineates and expands the molecular, phenotypic spectrum and natural history of PRMT7-related syndrome characterized by a neurodevelopmental disorder with skeletal, growth, and endocrine abnormalities.