Intrafamilial Phenotypic Variability Due to a Missense Pathogenic Variant in Fbp1 Gene

Intrafamilial Phenotypic Variability Due to a Missense Pathogenic Variant in Fbp1 Gene Publisher

Dalili S¹ ; Sedighi Pirsaraei N¹ ; Sharifi A² ; Pouryousef A¹ ; Aghaee F¹ ; Bayat R¹ ; Ghavami B¹ ; Rabbani B² ; Mahdieh N^{2, 3}

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1. Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
2. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran
3. Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Institute, Iran University of Medical Sciences, Tehran, Iran

Source: Molecular Genetics and Metabolism Reports Published:2024

Abstract

Background: FBPase deficiency as an autosomal recessive disorder is due pathogenic variants in the FBP1 gene. It usually presents with hyperlactic acidemia and hypoglycaemia starting from early childhood. Here, genotypes and phenotypes of all reported patients and their distributions are presented. In addition, we present an Iranian family with two affected children presenting with unusual symptoms due to pathogenic variants in the FBP1 gene. Clinical evaluations and laboratory assessments were performed for the affected members. Whole exome sequencing (WES) was applied in order to find the causal variant. In addition to segregation analysis within the family, variant pathogenicity analyses and predictions were done via bioinformatics tools and according to ACMG guidelines. The genotypes and detailed clinical features were documented for all patients. Results: The study included a population of 104 patients with different variants of the FBP1 gene; 75 were homozygotes. The average age of onset was 14.97 months. The most frequent clinical features were metabolic acidosis (71 cases), hypoglycemia (70 cases), vomiting (46 cases), hyperuricemia (37 cases), and respiratory distress (25 cases). 74 families were from Asia. The most common genotypes were c.841G > A/c.841G > A and c.472C > T/c.472C > T. WES test showed a pathogenic homozygous variant, c.472C > T in two cases of a family: a six-and-a-half-year-old girl with an older brother with different symptoms. All laboratory evaluations in the patient were normal except for the blood sugar. The patient experienced her first hypoglycemic episode at age 3. Conclusions: This is an unusual presentation of FBPase deficiency with intrafamilial phenotypic variability. © 2024 The Authors

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Seyed Mohammad Akrami (2)

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Style	Citing Format
MLA	Dalili S, et al.. "Intrafamilial Phenotypic Variability Due to a Missense Pathogenic Variant in Fbp1 Gene." Molecular Genetics and Metabolism Reports, vol. 41, no. , 2024, pp. -.
APA	Dalili S, Sedighi Pirsaraei N, Sharifi A, Pouryousef A, Aghaee F, Bayat R, Ghavami B, Rabbani B, Mahdieh N (2024). Intrafamilial Phenotypic Variability Due to a Missense Pathogenic Variant in Fbp1 Gene. Molecular Genetics and Metabolism Reports, 41(), -.
Chicago	Dalili S, Sedighi Pirsaraei N, Sharifi A, Pouryousef A, Aghaee F, Bayat R, Ghavami B, Rabbani B, Mahdieh N. "Intrafamilial Phenotypic Variability Due to a Missense Pathogenic Variant in Fbp1 Gene." Molecular Genetics and Metabolism Reports 41, no. (2024): -.
Harvard	Dalili S et al. (2024) 'Intrafamilial Phenotypic Variability Due to a Missense Pathogenic Variant in Fbp1 Gene', Molecular Genetics and Metabolism Reports, 41(), pp. -.
Vancouver	Dalili S, Sedighi Pirsaraei N, Sharifi A, Pouryousef A, Aghaee F, Bayat R, et al.. Intrafamilial Phenotypic Variability Due to a Missense Pathogenic Variant in Fbp1 Gene. Molecular Genetics and Metabolism Reports. 2024;41():-.
BibTex	@article{ author = {Dalili S and Sedighi Pirsaraei N and Sharifi A and Pouryousef A and Aghaee F and Bayat R and Ghavami B and Rabbani B and Mahdieh N}, title = {Intrafamilial Phenotypic Variability Due to a Missense Pathogenic Variant in Fbp1 Gene}, journal = {Molecular Genetics and Metabolism Reports}, volume = {41}, number = {}, pages = {-}, year = {2024} }
RIS	TY - JOUR AU - Dalili S AU - Sedighi Pirsaraei N AU - Sharifi A AU - Pouryousef A AU - Aghaee F AU - Bayat R AU - Ghavami B AU - Rabbani B AU - Mahdieh N TI - Intrafamilial Phenotypic Variability Due to a Missense Pathogenic Variant in Fbp1 Gene JO - Molecular Genetics and Metabolism Reports VL - 41 IS - SP - EP - PY - 2024 ER -

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