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Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
Am J Med Genet A. 2016 09; 170(9):2462-5.AJ

Abstract

Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, cartilage hair hypoplasia (CHH). CHH is a multi-system disorder with a variety of extraskeletal changes. Whereas AAD is a bone-restricted disorder with a more severe skeletal phenotype: affected individuals are extremely short and complicated by orthopedic morbidity, and the radiological changes include modification of the vertebral bodies and epiphyseal dysplasia of the hip, as well as generalized metaphyseal dysplasia and severe brachydactyly. Recently, genetic heterogeneity for AAD was proposed, because a familial case (two affected sibs) with an AAD-identical phenotype had compound heterozygous mutations in POP1, encoding a molecule functionally related to the gene product of RMRP. We report here a 5-year-old boy with the same phenotype born to a consanguineous couple. We identified a novel homozygous POP1 mutation (c.1744C>T, p.P582S) in the boy and the heterozygosity in the parents. It may be rational to coin the POP1-associated skeletal phenotype AAD type 2. © 2016 Wiley Periodicals, Inc.

Authors+Show Affiliations

Faculté de Médecine et de Pharmacie, Centre de Génomique Humaine, Université Mohammed V. Souissi, Rabat, Morocco. Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.Faculté de Médecine et de Pharmacie, Centre de Génomique Humaine, Université Mohammed V. Souissi, Rabat, Morocco. Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.Faculté de Médecine et de Pharmacie, Centre de Génomique Humaine, Université Mohammed V. Souissi, Rabat, Morocco. Service de Chirurgie Pédiatrique, Hôpital d'Enfants, Rabat, Morocco.Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Japan.Faculté de Médecine et de Pharmacie, Centre de Génomique Humaine, Université Mohammed V. Souissi, Rabat, Morocco. Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

27380734

Citation

Elalaoui, Siham Chafai, et al. "Further Evidence of POP1 Mutations as the Cause of Anauxetic Dysplasia." American Journal of Medical Genetics. Part A, vol. 170, no. 9, 2016, pp. 2462-5.
Elalaoui SC, Laarabi FZ, Mansouri M, et al. Further evidence of POP1 mutations as the cause of anauxetic dysplasia. Am J Med Genet A. 2016;170(9):2462-5.
Elalaoui, S. C., Laarabi, F. Z., Mansouri, M., Mrani, N. A., Nishimura, G., & Sefiani, A. (2016). Further evidence of POP1 mutations as the cause of anauxetic dysplasia. American Journal of Medical Genetics. Part A, 170(9), 2462-5. https://doi.org/10.1002/ajmg.a.37839
Elalaoui SC, et al. Further Evidence of POP1 Mutations as the Cause of Anauxetic Dysplasia. Am J Med Genet A. 2016;170(9):2462-5. PubMed PMID: 27380734.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Further evidence of POP1 mutations as the cause of anauxetic dysplasia. AU - Elalaoui,Siham Chafai, AU - Laarabi,Fatima Zahra, AU - Mansouri,Maria, AU - Mrani,Nidal Alaoui, AU - Nishimura,Gen, AU - Sefiani,Abdelaziz, Y1 - 2016/07/06/ PY - 2015/06/08/received PY - 2016/06/23/accepted PY - 2016/7/7/entrez PY - 2016/7/7/pubmed PY - 2017/10/20/medline KW - POP1 gene KW - anauxetic dysplasia KW - novel mutation SP - 2462 EP - 5 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 170 IS - 9 N2 - Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, cartilage hair hypoplasia (CHH). CHH is a multi-system disorder with a variety of extraskeletal changes. Whereas AAD is a bone-restricted disorder with a more severe skeletal phenotype: affected individuals are extremely short and complicated by orthopedic morbidity, and the radiological changes include modification of the vertebral bodies and epiphyseal dysplasia of the hip, as well as generalized metaphyseal dysplasia and severe brachydactyly. Recently, genetic heterogeneity for AAD was proposed, because a familial case (two affected sibs) with an AAD-identical phenotype had compound heterozygous mutations in POP1, encoding a molecule functionally related to the gene product of RMRP. We report here a 5-year-old boy with the same phenotype born to a consanguineous couple. We identified a novel homozygous POP1 mutation (c.1744C>T, p.P582S) in the boy and the heterozygosity in the parents. It may be rational to coin the POP1-associated skeletal phenotype AAD type 2. © 2016 Wiley Periodicals, Inc. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/27380734/Further_evidence_of_POP1_mutations_as_the_cause_of_anauxetic_dysplasia. L2 - https://doi.org/10.1002/ajmg.a.37839 DB - PRIME DP - Unbound Medicine ER -