Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations

Objectives To describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so‐called Kostmann syndrome, in France. Study Design Two pedigrees were identified from the French registry. Results The study included five subjects (three males), which represe...

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Published inPediatric blood & cancer Vol. 61; no. 6; pp. 1041 - 1048
Main Authors Roques, Gaëlle, Munzer, Martine, Barthez, Marie-Anne Carpentier, Beaufils, Sandrine, Beaupain, Blandine, Flood, Terry, Keren, Boris, Bellanné-Chantelot, Christine, Donadieu, Jean
Format Journal Article
LanguageEnglish
Published United States Blackwell Publishing Ltd 01.06.2014
Wiley Subscription Services, Inc
Subjects
Adaptor Proteins, Signal Transducing - chemistry
Adaptor Proteins, Signal Transducing - genetics
Adaptor Proteins, Signal Transducing - physiology
Atrophy
Bacterial Infections - etiology
Brain - pathology
Child
Child, Preschool
Consanguinity
Developmental Disabilities - genetics
Developmental Disabilities - pathology
encephalopathy
Ethnic Groups - genetics
Exons - genetics
Female
France
Genes, Recessive
Granulocyte Colony-Stimulating Factor - therapeutic use
HAX1
Hematology
Hematopoietic Stem Cell Transplantation
Humans
Immunocompromised Host
Infant
Intellectual Disability - genetics
Male
Mutation, Missense
Myelopoiesis - genetics
Myelopoiesis - physiology
Neutropenia - blood
Neutropenia - congenital
Neutropenia - genetics
Neutropenia - pathology
Neutropenia - surgery
Oncology
Pakistan - ethnology
Pediatrics
Pedigree
Polymorphism, Single Nucleotide
Protein Isoforms - chemistry
Protein Isoforms - genetics
Protein Isoforms - physiology
Sequence Deletion
severe congenital neutropenia
France
Pakistan
encephalopathy
severe congenital neutropenia
HAX1
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Abstract Objectives To describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so‐called Kostmann syndrome, in France. Study Design Two pedigrees were identified from the French registry. Results The study included five subjects (three males), which represent 0.7% of the 759 SCN cases registered in France. The age at diagnosis was 0.3 years (range: 0.1–1.2 years) and the median age at the last follow‐up was 7.3 years (range: 1.2–17.8 years). A novel large homozygous deletion of the HAX1 gene (exons 2–5) was found in one pedigree; while, a homozygous frameshift mutation was identified in exon 3 (c.430dupG, p.Val144fs) in the second pedigree. Severe bacterial infections were observed in four patients, including two cases of sepsis, one case of pancolitis, a lung abscess, and recurrent cellulitis and stomatitis. During routine follow‐up, the median neutrophil value was 0.16 × 109/L, associated with monocytosis (2 × 109/L). Bone marrow (BM) smears revealed a decrease of the granulocytic lineage with no mature myeloid cells above the myelocytes. One patient died at age 2 from neurological complications, while two other patients, including one who underwent a hematopoietic stem cell transplantation (HSCT) at age 5, are living with very severe neurological retardation. Conclusions SCN with HAX1 mutations, is a rare sub type of congenital neutropenia, mostly observed in population from Sweden and Asia minor, associating frequently neurological retardation, when the mutations involved the B isoform of the protein. Pediatr Blood Cancer 2014;61:1041–1048. © 2014 Wiley Periodicals, Inc.
AbstractList To describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so-called Kostmann syndrome, in France.OBJECTIVESTo describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so-called Kostmann syndrome, in France.Two pedigrees were identified from the French registry.STUDY DESIGNTwo pedigrees were identified from the French registry.The study included five subjects (three males), which represent 0.7% of the 759 SCN cases registered in France. The age at diagnosis was 0.3 years (range: 0.1-1.2 years) and the median age at the last follow-up was 7.3 years (range: 1.2-17.8 years). A novel large homozygous deletion of the HAX1 gene (exons 2-5) was found in one pedigree; while, a homozygous frameshift mutation was identified in exon 3 (c.430dupG, p.Val144fs) in the second pedigree. Severe bacterial infections were observed in four patients, including two cases of sepsis, one case of pancolitis, a lung abscess, and recurrent cellulitis and stomatitis. During routine follow-up, the median neutrophil value was 0.16 × 10(9)/L, associated with monocytosis (2 × 10(9)/L). Bone marrow (BM) smears revealed a decrease of the granulocytic lineage with no mature myeloid cells above the myelocytes. One patient died at age 2 from neurological complications, while two other patients, including one who underwent a hematopoietic stem cell transplantation (HSCT) at age 5, are living with very severe neurological retardation.RESULTSThe study included five subjects (three males), which represent 0.7% of the 759 SCN cases registered in France. The age at diagnosis was 0.3 years (range: 0.1-1.2 years) and the median age at the last follow-up was 7.3 years (range: 1.2-17.8 years). A novel large homozygous deletion of the HAX1 gene (exons 2-5) was found in one pedigree; while, a homozygous frameshift mutation was identified in exon 3 (c.430dupG, p.Val144fs) in the second pedigree. Severe bacterial infections were observed in four patients, including two cases of sepsis, one case of pancolitis, a lung abscess, and recurrent cellulitis and stomatitis. During routine follow-up, the median neutrophil value was 0.16 × 10(9)/L, associated with monocytosis (2 × 10(9)/L). Bone marrow (BM) smears revealed a decrease of the granulocytic lineage with no mature myeloid cells above the myelocytes. One patient died at age 2 from neurological complications, while two other patients, including one who underwent a hematopoietic stem cell transplantation (HSCT) at age 5, are living with very severe neurological retardation.SCN with HAX1 mutations, is a rare sub type of congenital neutropenia, mostly observed in population from Sweden and Asia minor, associating frequently neurological retardation, when the mutations involved the B isoform of the protein.CONCLUSIONSSCN with HAX1 mutations, is a rare sub type of congenital neutropenia, mostly observed in population from Sweden and Asia minor, associating frequently neurological retardation, when the mutations involved the B isoform of the protein.
Objectives To describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so‐called Kostmann syndrome, in France. Study Design Two pedigrees were identified from the French registry. Results The study included five subjects (three males), which represent 0.7% of the 759 SCN cases registered in France. The age at diagnosis was 0.3 years (range: 0.1–1.2 years) and the median age at the last follow‐up was 7.3 years (range: 1.2–17.8 years). A novel large homozygous deletion of the HAX1 gene (exons 2–5) was found in one pedigree; while, a homozygous frameshift mutation was identified in exon 3 (c.430dupG, p.Val144fs) in the second pedigree. Severe bacterial infections were observed in four patients, including two cases of sepsis, one case of pancolitis, a lung abscess, and recurrent cellulitis and stomatitis. During routine follow‐up, the median neutrophil value was 0.16 × 109/L, associated with monocytosis (2 × 109/L). Bone marrow (BM) smears revealed a decrease of the granulocytic lineage with no mature myeloid cells above the myelocytes. One patient died at age 2 from neurological complications, while two other patients, including one who underwent a hematopoietic stem cell transplantation (HSCT) at age 5, are living with very severe neurological retardation. Conclusions SCN with HAX1 mutations, is a rare sub type of congenital neutropenia, mostly observed in population from Sweden and Asia minor, associating frequently neurological retardation, when the mutations involved the B isoform of the protein. Pediatr Blood Cancer 2014;61:1041–1048. © 2014 Wiley Periodicals, Inc.
Objectives To describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so-called Kostmann syndrome, in France. Study Design Two pedigrees were identified from the French registry. Results The study included five subjects (three males), which represent 0.7% of the 759 SCN cases registered in France. The age at diagnosis was 0.3 years (range: 0.1-1.2 years) and the median age at the last follow-up was 7.3 years (range: 1.2-17.8 years). A novel large homozygous deletion of the HAX1 gene (exons 2-5) was found in one pedigree; while, a homozygous frameshift mutation was identified in exon 3 (c.430dupG, p.Val144fs) in the second pedigree. Severe bacterial infections were observed in four patients, including two cases of sepsis, one case of pancolitis, a lung abscess, and recurrent cellulitis and stomatitis. During routine follow-up, the median neutrophil value was 0.16×109/L, associated with monocytosis (2×109/L). Bone marrow (BM) smears revealed a decrease of the granulocytic lineage with no mature myeloid cells above the myelocytes. One patient died at age 2 from neurological complications, while two other patients, including one who underwent a hematopoietic stem cell transplantation (HSCT) at age 5, are living with very severe neurological retardation. Conclusions SCN with HAX1 mutations, is a rare sub type of congenital neutropenia, mostly observed in population from Sweden and Asia minor, associating frequently neurological retardation, when the mutations involved the B isoform of the protein. Pediatr Blood Cancer 2014;61:1041-1048. © 2014 Wiley Periodicals, Inc. [PUBLICATION ABSTRACT]
To describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so-called Kostmann syndrome, in France. Two pedigrees were identified from the French registry. The study included five subjects (three males), which represent 0.7% of the 759 SCN cases registered in France. The age at diagnosis was 0.3 years (range: 0.1-1.2 years) and the median age at the last follow-up was 7.3 years (range: 1.2-17.8 years). A novel large homozygous deletion of the HAX1 gene (exons 2-5) was found in one pedigree; while, a homozygous frameshift mutation was identified in exon 3 (c.430dupG, p.Val144fs) in the second pedigree. Severe bacterial infections were observed in four patients, including two cases of sepsis, one case of pancolitis, a lung abscess, and recurrent cellulitis and stomatitis. During routine follow-up, the median neutrophil value was 0.16 × 10(9)/L, associated with monocytosis (2 × 10(9)/L). Bone marrow (BM) smears revealed a decrease of the granulocytic lineage with no mature myeloid cells above the myelocytes. One patient died at age 2 from neurological complications, while two other patients, including one who underwent a hematopoietic stem cell transplantation (HSCT) at age 5, are living with very severe neurological retardation. SCN with HAX1 mutations, is a rare sub type of congenital neutropenia, mostly observed in population from Sweden and Asia minor, associating frequently neurological retardation, when the mutations involved the B isoform of the protein.
Author Barthez, Marie-Anne Carpentier
Bellanné-Chantelot, Christine
Flood, Terry
Keren, Boris
Beaufils, Sandrine
Donadieu, Jean
Munzer, Martine
Roques, Gaëlle
Beaupain, Blandine
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  email: Correspondence to: Jean Donadieu, Service d'Hématologie-Oncologie Pédiatrique, APHP Hôpital Trousseau, 26 avenue du Dr A Netter, Paris 75012, France., jean.donadieu@trs.aphp.fr
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Keywords encephalopathy
severe congenital neutropenia
HAX1
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Faiyaz-Ul-Haque M, Al-Jefri A, Abalkhail HA, et al. A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease). Clin Genet 2009; 76:569-572.
Germeshausen M, Grudzien M, Zeidler C, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 2008; 111:4954-4957.
Klein C, Grudzien M, Appaswamy G, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007; 39:86-92.
Chao JR, Parganas E, Boyd K, et al. Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons. Nature 2008; 452:98-102.
Carlsson G, Winiarski J, Ljungman P, et al. Hematopoietic stem cell transplantation in severe congenital neutropenia. Pediatr Blood Cancer 2011; 56:444-451.
Suzuki Y, Demoliere C, Kitamura D, et al. HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases. J Immunol 1997; 158:2736-2744.
Ferry C, Ouachee M, Leblanc T, et al. Hematopoietic stem cell transplantation in severe congenital neutropenia: Experience of the French SCN register. Bone Marrow Transplant 2005; 35:45-50.
Lanciotti M, Indaco S, Bonanomi S, et al. Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia. Haematologica 2010; 95:168-169.
Carlsson G, Fasth A, Berglof E, et al. Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia. Br J Haematol 2012; 158:363-369.
Kostmann R. Hereditär reticulos-en ny systemsjukdom. Svenska Läkartideningen 1950; 47:2861-2868.
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Carlsson G, Fasth A. Infantile genetic agranulocytosis, morbus Kostmann: Presentation of six cases from the original "Kostmann family" and a review. Acta Paediatr 2001; 90:757-764.
Ishikawa N, Okada S, Miki M, et al. Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. J Med Genet 2008; 45:802-807.
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Donadieu J, Fenneteau O, Beaupain B, et al. Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. Haematologica 2012; 97:1312-1319.
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2008; 111
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2008; 452
2009; 147
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2005; 35
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Mamishi S (e_1_2_7_17_1) 2009; 19
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Snippet Objectives To describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so‐called Kostmann syndrome, in...
To describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so-called Kostmann syndrome, in France. Two...
Objectives To describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so-called Kostmann syndrome, in...
To describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so-called Kostmann syndrome, in...
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SubjectTerms Adaptor Proteins, Signal Transducing - chemistry
Adaptor Proteins, Signal Transducing - genetics
Adaptor Proteins, Signal Transducing - physiology
Atrophy
Bacterial Infections - etiology
Brain - pathology
Child
Child, Preschool
Consanguinity
Developmental Disabilities - genetics
Developmental Disabilities - pathology
encephalopathy
Ethnic Groups - genetics
Exons - genetics
Female
France
Genes, Recessive
Granulocyte Colony-Stimulating Factor - therapeutic use
HAX1
Hematology
Hematopoietic Stem Cell Transplantation
Humans
Immunocompromised Host
Infant
Intellectual Disability - genetics
Male
Mutation, Missense
Myelopoiesis - genetics
Myelopoiesis - physiology
Neutropenia - blood
Neutropenia - congenital
Neutropenia - genetics
Neutropenia - pathology
Neutropenia - surgery
Oncology
Pakistan - ethnology
Pediatrics
Pedigree
Polymorphism, Single Nucleotide
Protein Isoforms - chemistry
Protein Isoforms - genetics
Protein Isoforms - physiology
Sequence Deletion
severe congenital neutropenia
Title Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations
URI https://api.istex.fr/ark:/67375/WNG-NDFX73DV-S/fulltext.pdf
https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fpbc.24964
https://www.ncbi.nlm.nih.gov/pubmed/24482108
https://www.proquest.com/docview/1516397111
https://www.proquest.com/docview/1517398294
Volume 61
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