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CYB5R3 HOMOZYGOUS MUTATION AS A RARE CAUSE OF CYANOSIS IN THE NEWBORN
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  • David Molina Herranz,
  • Cristina García Escudero,
  • Segundo Rite Gracia,
  • Yurena Aguilar de la Red,
  • Jorge Martínez Nieto,
  • Silvia Izquierdo Álvarez,
  • María Ángeles Montañés Gracia,
  • María del Valle Recasens Flores,
  • Carlos Francisco Hernández Mata
David Molina Herranz
Miguel Servet University Hospital

Corresponding Author:[email protected]

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Cristina García Escudero
Miguel Servet University Hospital
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Segundo Rite Gracia
Miguel Servet University Hospital
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Yurena Aguilar de la Red
Miguel Servet University Hospital
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Jorge Martínez Nieto
San Carlos University Hospital
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Silvia Izquierdo Álvarez
Miguel Servet University Hospital
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María Ángeles Montañés Gracia
Miguel Servet University Hospital
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María del Valle Recasens Flores
Miguel Servet University Hospital
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Carlos Francisco Hernández Mata
Miguel Servet University Hospital
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Abstract

We present here a very illustrative case of a rare pathology of recessive congenital methemoglobinemia. The patient, a newborn female, has the variant NM_000398.7:c.535G>A, p.(Ala179Thr) of the CYB5R3 gene in homozygosis, a variant classified as pathogenic. The reported population frequency of the allele is 0.0128%, reason why it is remarkable to find both parents are heterozygous carriers without consanguinity. A brief review of previously published cases are presented.