Chromosome: Xp11.3
Gene: NFUFB11 (NADH:ubiquinone oxidoreductase subunit B11)
Product: has NADH dehydrogenase activity and oxidoreductase activity; it transfers electrons from NADH to ubiquinone
Location: mitochondria (component of mitochondrial complex I)
Inheritance: X-linked (severe mutations in males can result in intrauterine death)
Features of anemia:
(1) early-onset anemia
(2) associated with lactic acidosis
(3) bone marrow biopsy shows the presence of sideroblasts
Other findings that may be associated with mutations in NDUFB11:
(1) microphthalmia with linear skin defects (MLS) syndrome
(2) histiocytoid cardiomyopathy
(3) developmental delay
(4) abnormalities of the central nervous system
(5) short stature
(6) genitourinary anomalies
