Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

Barbara Schmaltz-Panneau; Anne Pagnier; Séverine Clauin; Julien Buratti; Caroline Marty; Odile Fenneteau; Klaus Dieterich; Blandine Beaupain; Jean Donadieu; Isabelle Plo; Christine Bellanné-Chantelot

doi:10.3324/haematol.2020.247825

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

Haematologica. 2021 Apr 1;106(4):1216-1219. doi: 10.3324/haematol.2020.247825.

Affiliations

¹ INSERM U1287, Gustave Roussy, Villejuif, France; Paris Saclay University, U1287, Villejuif, France.
² Department of Pediatric Hematology and Oncology, CHU Grenoble Alpes, Grenoble, France.
³ Department of Genetics, Pitié-Salpêtrière Hospital, APHP, Paris, France.
⁴ Laboratory of Hematology, Robert Debré Hospital - Université de Paris, France.
⁵ Department of Medical Genetics, Univ. Grenoble Alpes, INSERM U1216, CHU Grenoble Alpes, Grenoble.
⁶ French Registry of Chronic Neutropenia, Trousseau Hospital, Paris, France.
⁷ Department of Pediatric Hematology and Oncology, Trousseau Hospital, AP-HP, Paris, France.
⁸ Dept of Genetics, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Congenital Bone Marrow Failure Syndromes
Germ Cells
Germ-Line Mutation
Humans
Neutropenia* / congenital
Neutropenia* / diagnosis
Neutropenia* / genetics
Signal Recognition Particle / genetics

Substances

SRP68 protein, human
Signal Recognition Particle

Supplementary concepts

Neutropenia, Severe Congenital, Autosomal Recessive 3

Grants and funding

Funding: the whole-exome sequencing was funded by the Foundation for rare diseases (AO9102LS) and the research was supported by grants from INCA-PLBIO 2017 (I Plo). The French Registry is supported by grants from X4 pharma, Prolong Pharma and Chugai SA to BB and JD.