Acromesomelic dysplasia, Maroteaux type

Definition:

Acromesomelic dysplasia, Maroteaux type is an autosomal recessive skeletal dysplasia that affects postnatal skeletal growth. Affected individuals show marked short stature and limb shortening. Homozygous loss-of-function mutations in NPR2 have been identified.

References:

[1]. Alistair N Hume, et al. Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. Hum Mol Genet. 2009 Jan 15;18(2):267-77. [Content Brief]

[2]. Cynthia F Bartels, et al. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet. 2004 Jul;75(1):27-34. [Content Brief]

[3]. Rumi Hachiya, et al. Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development. J Clin Endocrinol Metab. 2007 Oct;92(10):4009-14. [Content Brief]

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