CYB5R3 homozygous pathogenic variant as a rare cause of cyanosis in the newborn

D Molina Herranz; C García Escudero; S Rite Gracia; Y Aguilar de la Red; J Martínez Nieto; S Izquierdo Álvarez; M A Montañés Gracia; V Recasens; C F Hernández Mata

doi:10.1016/j.clinbiochem.2022.01.008

CYB5R3 homozygous pathogenic variant as a rare cause of cyanosis in the newborn

Clin Biochem. 2022 Apr:102:67-70. doi: 10.1016/j.clinbiochem.2022.01.008. Epub 2022 Jan 31.

Authors

D Molina Herranz¹, C García Escudero², S Rite Gracia³, Y Aguilar de la Red⁴, J Martínez Nieto⁵, S Izquierdo Álvarez⁶, M A Montañés Gracia⁷, V Recasens⁸, C F Hernández Mata⁷

Affiliations

¹ Servicio de Pediatría, Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009 Zaragoza, Spain. Electronic address: [email protected].
² Unidad de Neonatología, Servicio de Pediatría, Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009 Zaragoza, Spain. Electronic address: [email protected].
³ Unidad de Neonatología, Servicio de Pediatría, Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009 Zaragoza, Spain. Electronic address: [email protected].
⁴ Unidad de Oncología y Hematología pediátrica, Servicio de Pediatría, Hospital Universitario Miguel Servet, Paseo Isabel la Católica 1-3, 50009 Zaragoza, Spain.
⁵ Servicio de Hematología, Hospital Universitario San Carlos, Calle del Prof Martín Lagos, s/n, 28040 Madrid, Spain.
⁶ Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009 Zaragoza, Spain. Electronic address: [email protected].
⁷ Servicio de Hematología, Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009 Zaragoza, Spain.
⁸ Servicio de Hematología, Hospital Universitario Miguel Servet, Paseo Isabel la Católica, 1-3, 50009 Zaragoza, Spain. Electronic address: [email protected].

PMID: 35104462
DOI: 10.1016/j.clinbiochem.2022.01.008

Abstract

Detailed below is a very illustrative case of a rare pathology of recessive congenital methemoglobinemia. The patient, a newborn female, was homozygous for c.535G > A, p.(Ala179Thr) a pathogenic variant in the CYB5R3 gene. The reported population frequency of the allele is 0.853%, demonstrating why it is remarkable to find both parents are heterozygous carriers without consanguinity. A brief review of previously published cases is also presented.

Keywords: CYB5R3; Cyanosis; Methemoglobin; Newborn; Recessive Congenital Methemoglobinemia.

Publication types

Case Reports

MeSH terms

Cyanosis / genetics
Cytochrome-B(5) Reductase* / genetics
Female
Gene Frequency
Homozygote
Humans
Infant, Newborn
Methemoglobinemia* / complications
Methemoglobinemia* / congenital
Methemoglobinemia* / genetics

Substances

CYB5R3 protein, human
Cytochrome-B(5) Reductase