Mutations in CLPB result in a mitochondrial disease that has a number of clinical manifestations.
Chromosome location: 11q13.4
Gene: CLPB
Protein: caseinolytic peptidase B homologue (ClpB)
Inheritance: autosomal recessive
Key clinical features:
(1) cataracts
(2) renal medullary cysts
(3) nephrocalcinosis
Key laboratory features:
(1) 3-methylglutaconic aciduria
(2) neutropenia
Variable findings:
(1) hyper- or hypotonia
(2) progressive brain atrophy
(3) movement disorder (ataxia, tremor, dystonia, absence of voluntary movements, other)
(4) intellectual disability
(5) microcephaly
(6) epilepsy
(7) respiratory insufficiency
(8) swallowing problems
(9) exaggerated startle response as an infant (hyperekplexia)
