Pelin Özlem Şimsek-Kiper, Gülen Eda Utine, Özlem Akgün Doğan, Koray Boduroğlu

Anauxetic dysplasia: A rare clinical entity

Cartilage hair hypoplasia and anauxetic dysplasia spectrum constitute agroup of autosomal recessive disorders characterized by variable extent ofmetaphyseal to spondylometaepiphyseal involvement and various additionalclinical features. Within this group, anauxetic dysplasia represents the severeend of the skeletal spectrum. However, extraskeletal features includingimmunodeficiency, hematological abnormalities, and hair hypoplasia are absent,despite the severe skeletal involvement. This disorder is caused by mutationsin the gene encoding ribonuclease mitochondrial RNA-processing complex.We herein report on a patient with anauxetic dysplasia, who presented withsevere roto-scoliosis and skeletal findings requiring surgical intervention, andin whom a homozygous RMRP mutation was detected.

PDF

___

1. Horn D, Rupprecht E, Kunze J, Spranger J. Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. J Med Genet 2001; 38: 262- 265.
2. Thiel CT, Rauch A. The molecular basis of the cartilagehair hypoplasia-anauxetic dysplasia spectrum. Best Pract Res Clin Endocrinol Metab 2011; 25: 131-142.
3. McKusick VA, Eldridge R, Hostetler JA, Ruangwit U, Egeland JA. Dwarfism in the Amish. II. Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp 1965; 116: 285- 326.
4. Makitie O, Kaitila I, Rintala R. Hirschsprung disease associated with severe cartilage-hair hypoplasia. J Pediatr 2001; 138: 929-931.
5. Glazov EA, Zankl A, Donskoi M, et al. Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genet 2011; 7: e1002027.
6. Elalaoui SC, Laarabi FZ, Mansouri M, Mrani NA, Nishimura G, Sefiani A. Further evidence of POP1 mutations as the cause of anauxetic dysplasia. Am J Med Genet A 2016; 170: 2462-2465.
7. Menger H, Mundlos S, Becker K, Spranger J, Zabel B. An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature. Am J Med Genet 1996; 63: 80-83.
8. Thiel CT, Horn D, Zabel B, et al. Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet 2005; 77: 795-806.
9. Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet 2007; 81: 519- 529.