Table 5.

Disorders in the Differential Diagnosis of Pearson Syndrome

GeneDisorderMOIComment
~22 genes incl:
RPL5
RPL11
RPS19
RPS26		Diamond-Blackfan anemia (DBA)AD
XL
  • Inherited blood disorder assoc w/anemia & variable congenital abnormalities
  • In a cohort of 362 individuals clinically (but not genetically confirmed) diagnosed w/DBA, 2.2% had an SLSMD identified, consistent w/PS. 1
ANAPC1
RECQL4 		Rothmund-Thomson syndrome ARSkin rash (poikiloderma), small size, feeding difficulties, poor weight gain, chronic diarrhea, anemia, & neutropenia

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; mtDNA = mitochondrial DNA; PS = Pearson syndrome; SLSMD = single large-scale mitochondrial DNA deletion; XL = X-linked

1.

From: Single Large-Scale Mitochondrial DNA Deletion Syndromes

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