Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

Abstract Background Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, congenital dyserythropoietic anemia (CDA), and often neutrophilic dermato...

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Main Authors:	Jun Liu, Xu-Yun Hu, Zhi-Peng Zhao, Ruo-Lan Guo, Jun Guo, Wei Li, Chan-Juan Hao, Bao-Ping Xu
Format:	Article
Language:	English
Published:	BMC 2019-11-01
Series:	BMC Medical Genetics
Subjects:	Majeed syndrome Fever Neutropenia Autosomal recessive
Online Access:	http://link.springer.com/article/10.1186/s12881-019-0919-3

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spelling	doaj-781c2adb956f4eab90c14be4775359fb2021-04-02T16:18:36ZengBMCBMC Medical Genetics1471-23502019-11-012011510.1186/s12881-019-0919-3Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case reportJun Liu0Xu-Yun Hu1Zhi-Peng Zhao2Ruo-Lan Guo3Jun Guo4Wei Li5Chan-Juan Hao6Bao-Ping Xu7China National Clinical Research Center of Respiratory Diseases, Respiratory Department of Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthChina National Clinical Research Center of Respiratory Diseases, Respiratory Department of Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthChina National Clinical Research Center of Respiratory Diseases, Respiratory Department of Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthAbstract Background Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, congenital dyserythropoietic anemia (CDA), and often neutrophilic dermatosis. Mutations in the LPIN2 gene located on the short arm of chromosome 18 have been identified as being responsible for Majeed syndrome. Case presentation We report an 8-month-old boy, who presented with recurrent fever, mild to moderate anemia, and severe neutropenia. Erythrocyte sedimentation rate and C-reactive protein were elevated. Molecular testing identified a paternal splicing donor site variant c.2327 + 1G > C and a maternal frameshift variant c.1691_1694delGAGA (Arg564Lysfs*3) in LPIN2. Conclusions Only a few cases with LPIN2 mutation have been reported, mainly in the Middle East with homozygous variants. Our patient exhibited a mild clinical phenotype and severe neutropenia, different from previous reports.http://link.springer.com/article/10.1186/s12881-019-0919-3Majeed syndromeFeverNeutropeniaAutosomal recessive
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Jun Liu Xu-Yun Hu Zhi-Peng Zhao Ruo-Lan Guo Jun Guo Wei Li Chan-Juan Hao Bao-Ping Xu
spellingShingle	Jun Liu Xu-Yun Hu Zhi-Peng Zhao Ruo-Lan Guo Jun Guo Wei Li Chan-Juan Hao Bao-Ping Xu Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report BMC Medical Genetics Majeed syndrome Fever Neutropenia Autosomal recessive
author_facet	Jun Liu Xu-Yun Hu Zhi-Peng Zhao Ruo-Lan Guo Jun Guo Wei Li Chan-Juan Hao Bao-Ping Xu
author_sort	Jun Liu
title	Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report
title_short	Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report
title_full	Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report
title_fullStr	Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report
title_full_unstemmed	Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report
title_sort	compound heterozygous lpin2 pathogenic variants in a patient with majeed syndrome with recurrent fever and severe neutropenia: case report
publisher	BMC
series	BMC Medical Genetics
issn	1471-2350
publishDate	2019-11-01
description	Abstract Background Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, congenital dyserythropoietic anemia (CDA), and often neutrophilic dermatosis. Mutations in the LPIN2 gene located on the short arm of chromosome 18 have been identified as being responsible for Majeed syndrome. Case presentation We report an 8-month-old boy, who presented with recurrent fever, mild to moderate anemia, and severe neutropenia. Erythrocyte sedimentation rate and C-reactive protein were elevated. Molecular testing identified a paternal splicing donor site variant c.2327 + 1G > C and a maternal frameshift variant c.1691_1694delGAGA (Arg564Lysfs*3) in LPIN2. Conclusions Only a few cases with LPIN2 mutation have been reported, mainly in the Middle East with homozygous variants. Our patient exhibited a mild clinical phenotype and severe neutropenia, different from previous reports.
topic	Majeed syndrome Fever Neutropenia Autosomal recessive
url	http://link.springer.com/article/10.1186/s12881-019-0919-3
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Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

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