A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history-Reference-Cited by-同舟云学术

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

Published:2017-12-21 Issue:2 Volume:176 Page:415-420
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Jeffries Lauren¹^ORCID,Shima Hirohito²³,Ji Weizhen¹,Panisello‐Manterola David¹,McGrath James⁴,Bird Lynne M.⁵,Konstantino Monica¹,Narumi Satoshi²³,Lakhani Saquib¹

Affiliation:

1. Pediatric Genomics Discovery ProgramDepartment of PediatricsYale University School of MedicineNew HavenConnecticut

2. Department of PediatricsKeio University School of MedicineTokyoJapan

3. Department of Molecular EndocrinologyNational Research Institute for Child Health and DevelopmentTokyoJapan

4. Department of GeneticsYale University School of MedicineNew HavenConnecticut

5. Department of PediatricsDivision of Genetics/DysmorphologyUC San Diego and Rady Children's HospitalSan DiegoCalifornia

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38557

Reference6 articles.

1. Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

2. Overexpression of SAMD9 suppresses tumorigenesis and progression during non small cell lung cancer

3. The complex domain architecture of SAMD9 family proteins, predicted STAND-like NTPases, suggests new links to inflammation and apoptosis

4. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

5. Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome

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2. Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9/SAMD9L Germline Mutation;Journal of Pediatric Hematology/Oncology;2022-10-21

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4. Clinical characteristics of patients with the SAMD9/SAMD9L gene defects;Pediatric Hematology/Oncology and Immunopathology;2022-08-29

5. Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome;Frontiers in Endocrinology;2022-08-18