Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

Pilar L Magoulas; Oleg A Shchelochkov; Matthew N Bainbridge; Shay Ben-Shachar; Svetlana Yatsenko; Lorraine Potocki; Richard A Lewis; Charles Searby; Andrea N Marcogliese; M Tarek Elghetany; Gladys Zapata; Paula P Hernández; Manasi Gadkari; Derek Einhaus; Donna M Muzny; Richard A Gibbs; Alison A Bertuch; Daryl A Scott; Silvia Corvera; Luis M Franco

doi:10.1182/blood-2017-12-824433

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

Blood. 2018 Aug 9;132(6):658-662. doi: 10.1182/blood-2017-12-824433. Epub 2018 May 21.

Authors

Pilar L Magoulas^{1

2}, Oleg A Shchelochkov³, Matthew N Bainbridge⁴, Shay Ben-Shachar⁵, Svetlana Yatsenko^{6

7

8}, Lorraine Potocki^{1

2}, Richard A Lewis^{2

9}, Charles Searby¹⁰, Andrea N Marcogliese^{1

11

12}, M Tarek Elghetany^{1

11

12}, Gladys Zapata^{2

13}, Paula P Hernández^{2

13}, Manasi Gadkari¹⁴, Derek Einhaus¹⁴, Donna M Muzny¹⁵, Richard A Gibbs¹⁵, Alison A Bertuch^{1

12}, Daryl A Scott^{1

2

16}, Silvia Corvera¹⁷, Luis M Franco¹⁴

Affiliations

¹ Texas Children's Hospital, Houston, TX.
² Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
³ Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
⁴ Rady Children's Institute for Genomic Medicine, San Diego, CA.
⁵ Genetics Institute, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
⁶ Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine.
⁷ Department of Pathology, School of Medicine, and.
⁸ Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA.
⁹ Department of Ophthalmology, Baylor College of Medicine, Houston, TX.
¹⁰ University of Iowa, Iowa City, IA.
¹¹ Department of Pathology and Immunology and.
¹² Section of Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
¹³ US Department of Agriculture/Agricultural Research Service Children's Nutrition Research Center, Section of Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
¹⁴ Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
¹⁵ The Human Genome Sequencing Center and.
¹⁶ Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX; and.
¹⁷ Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA.

Abstract

Publisher's Note: There is a Blood Commentary on this article in this issue.

Publication types

Case Reports
Letter
Research Support, N.I.H., Intramural

MeSH terms

Abnormalities, Multiple / genetics
Bone Marrow Transplantation
Child
Consanguinity
Fatal Outcome
Female
Gonadal Dysgenesis, 46,XY / genetics
Hematopoietic Stem Cell Transplantation
Humans
Infant
Intellectual Disability / genetics
Male
Pedigree
Phenotype
Primary Myelofibrosis / congenital
Primary Myelofibrosis / genetics*
Primary Myelofibrosis / therapy
Syndrome
Vesicular Transport Proteins / deficiency*
Vesicular Transport Proteins / genetics
Vesicular Transport Proteins / physiology

Substances

RBSN protein, human
Vesicular Transport Proteins

Grants and funding

R01 DK089101/DK/NIDDK NIH HHS/United States