Artikel: Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.
Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion
2022 Band 74, Heft 6, Seite(n) 328–339
Abstract: Background: Severe congenital neutropenia type 4 (SCN4) is a rare autosomal recessive granulopoiesis disorder caused by : Objectives: The objective of the study was to study non-hematological phenotypic findings that suggest a clinical diagnosis of ... ...
Abstract | Background: Severe congenital neutropenia type 4 (SCN4) is a rare autosomal recessive granulopoiesis disorder caused by Objectives: The objective of the study was to study non-hematological phenotypic findings that suggest a clinical diagnosis of SCN4. Methods: We examined medical records of patients diagnosed with neutropenia from January 2000 to December 2020, selecting cases with non-hematologic manifestations for phenotypic description and Results: We found 11 cases with non-hematologic features: congenital heart defects in 8, IVSV in 6, inflammatory bowel disease in 4, urogenital defects in 4, and similar facial appearance. In addition, Sanger sequencing confirmed 3 homozygous cases for the c.210delC variant, a compound heterozygous harboring this variant, and a c.199_218+1 deletion. Conclusions: Our findings of the c.210delC variant in very close geographical settings, to date, have only been reported among Mexicans, and a mutual uncommon surname in two families strongly supports a founder effect for the variant in the studied population. Furthermore, the described non-hematologic symptoms in patients with severe primary neutropenia should be explored, confirming SCN4 by investigating |
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Mesh-Begriff(e) | Humans ; Glucose-6-Phosphatase/genetics ; Heart Defects, Congenital/genetics ; Inflammatory Bowel Diseases/genetics ; Mutation ; Neutropenia/epidemiology ; Neutropenia/genetics ; Neutropenia/congenital ; Rare Diseases |
Chemische Substanzen | G6PC3 protein, human (EC 3.1.3.9.) ; Glucose-6-Phosphatase (EC 3.1.3.9) |
Sprache | Englisch |
Erscheinungsdatum | 2022-12-22 |
Erscheinungsland | Mexico |
Dokumenttyp | Journal Article |
ZDB-ID | 138348-6 |
ISSN | 0034-8376 |
ISSN | 0034-8376 |
DOI | 10.24875/RIC.22000234 |
Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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