Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI
American Journal of Medical Genetics, Part A, Volume 152 A, No. 12, Year 2010
Notification
URL copied to clipboard!
Description
Biallelic mutations in the gene encoding HCLS-associated protein X-1 (HAX1) cause autosomal recessive severe congenital neutropenia (SCN). Some of these patients have neurological abnormalities including developmental delay, cognitive impairment, and/or epilepsy. Recent genotype-phenotype studies have shown that mutations in HAX1 affecting transcripts A (NM_006118.3) and B (NM_001018837.1) cause the phenotype of SCN with neurological impairment, while mutations affecting isoform A but not B lead to SCN without neurological aberrations. In this study, we identified a consanguineous family with two patients suffering from SCN and neurological disease caused by a novel, homozygous genomic deletion including exons 4-7 of the HAX1 gene. Quantitative MRI analyses showed generalized alterations in cerebral proton density in both of the patients, as well as in an additional unrelated patient with another HAX1 mutation (Arg86X) known to be associated with neurological manifestations. This study provides first in vivo evidence of aberrant neuroimaging findings associated with HAX1 deficiency in SCN patients. © 2010 Wiley-Liss, Inc.
Authors & Co-Authors
Boztug, Kaan
Germany, Hannover
Hannover Medical School
Ding, Xiao Qi
Germany, Hannover
Hannover Medical School
Hartmann, Hans
Germany, Hannover
Hannover Medical School
Ziesenitz, Lena
Germany, Hannover
Hannover Medical School
Schäffer, Alejandro A.
United States, Bethesda
National Institutes of Health Nih
Diestelhorst, Jana
Germany, Hannover
Hannover Medical School
Pfeifer, Dietmar
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Appaswamy, Giridharan
Germany, Hannover
Hannover Medical School
Kehbel, Sonja
Germany, Hannover
Hannover Medical School
Simon, Thorsten
Germany, Koln
Universität zu Köln
Al-Jefri, Abdullah Hussain
South Africa
King Faisal Specialist Hospital and Research Center
Lanfermann, Heinrich
Germany, Hannover
Hannover Medical School
Klein, Christoph A.
Germany, Hannover
Hannover Medical School
Statistics
Citations: 25
Authors: 13
Affiliations: 5
Identifiers
Doi:
10.1002/ajmg.a.33748
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Approach
Quantitative