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Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.
Am J Med Genet A. 2016 Jan; 170A(1):210-6.AJ

Abstract

Primordial dwarfism encompasses rare conditions characterized by severe intrauterine growth retardation and growth deficiency throughout life. Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis). Using a custom-designed Next-generation sequencing skeletal dysplasia panel, we have identified two novel homozygous POC1A mutations in two individuals with primordial dwarfism. The severe growth retardation and the facial profiles are strikingly similar between our patients and those described previously. However, one of our patients was diagnosed with severe foramen magnum stenosis and subglottic tracheal stenosis, malformations not previously associated with this syndrome. Our findings confirm that POC1A mutations cause SOFT syndrome and that mutations in this gene should be considered in patients with severe pre- and postnatal short stature, symmetric shortening of long bones, triangular facies, sparse hair and short, thickened distal phalanges.

Authors+Show Affiliations

Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain. Multidisciplinary Skeletal Dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain. Multidisciplinary Skeletal Dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.Department of Pediatric Endocrinology, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Spain.Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain. Multidisciplinary Skeletal Dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain. Department of Pediatrics, Medical Genetics Section, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, Spain.Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain. Multidisciplinary Skeletal Dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain. Department of Pediatric Endocrinology, Hospital Universitario Infanta Leonor, Madrid, Spain.Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain.Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain. Multidisciplinary Skeletal Dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain.Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain. Multidisciplinary Skeletal Dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain. Department of Pediatrics, Medical Genetics Section, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, Spain. Cátedra de Genética Médica, UCAM-Universidad Católica San Antonio de Murcia, Spain.Multidisciplinary Skeletal Dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain. Department of Pediatric Endocrinology, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Spain.Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain. Multidisciplinary Skeletal Dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain. Multidisciplinary Skeletal Dysplasia Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26374189

Citation

Barraza-García, Jimena, et al. "Two Novel POC1A Mutations in the Primordial Dwarfism, SOFT Syndrome: Clinical Homogeneity but Also Unreported Malformations." American Journal of Medical Genetics. Part A, vol. 170A, no. 1, 2016, pp. 210-6.
Barraza-García J, Iván Rivera-Pedroza C, Salamanca L, et al. Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations. Am J Med Genet A. 2016;170A(1):210-6.
Barraza-García, J., Iván Rivera-Pedroza, C., Salamanca, L., Belinchón, A., López-González, V., Sentchordi-Montané, L., del Pozo, Á., Santos-Simarro, F., Campos-Barros, Á., Lapunzina, P., Guillén-Navarro, E., González-Casado, I., García-Miñaur, S., & Heath, K. E. (2016). Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations. American Journal of Medical Genetics. Part A, 170A(1), 210-6. https://doi.org/10.1002/ajmg.a.37393
Barraza-García J, et al. Two Novel POC1A Mutations in the Primordial Dwarfism, SOFT Syndrome: Clinical Homogeneity but Also Unreported Malformations. Am J Med Genet A. 2016;170A(1):210-6. PubMed PMID: 26374189.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations. AU - Barraza-García,Jimena, AU - Iván Rivera-Pedroza,Carlos, AU - Salamanca,Luis, AU - Belinchón,Alberta, AU - López-González,Vanesa, AU - Sentchordi-Montané,Lucía, AU - del Pozo,Ángela, AU - Santos-Simarro,Fernando, AU - Campos-Barros,Ángel, AU - Lapunzina,Pablo, AU - Guillén-Navarro,Encarna, AU - González-Casado,Isabel, AU - García-Miñaur,Sixto, AU - Heath,Karen E, Y1 - 2015/09/16/ PY - 2015/06/23/received PY - 2015/09/07/accepted PY - 2015/9/17/entrez PY - 2015/9/17/pubmed PY - 2016/11/12/medline KW - POC1A KW - SOFT syndrome KW - centriole KW - primordial dwarfism KW - skeletal dysplasia SP - 210 EP - 6 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 170A IS - 1 N2 - Primordial dwarfism encompasses rare conditions characterized by severe intrauterine growth retardation and growth deficiency throughout life. Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis). Using a custom-designed Next-generation sequencing skeletal dysplasia panel, we have identified two novel homozygous POC1A mutations in two individuals with primordial dwarfism. The severe growth retardation and the facial profiles are strikingly similar between our patients and those described previously. However, one of our patients was diagnosed with severe foramen magnum stenosis and subglottic tracheal stenosis, malformations not previously associated with this syndrome. Our findings confirm that POC1A mutations cause SOFT syndrome and that mutations in this gene should be considered in patients with severe pre- and postnatal short stature, symmetric shortening of long bones, triangular facies, sparse hair and short, thickened distal phalanges. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/26374189/Two_novel_POC1A_mutations_in_the_primordial_dwarfism_SOFT_syndrome:_Clinical_homogeneity_but_also_unreported_malformations_ L2 - https://doi.org/10.1002/ajmg.a.37393 DB - PRIME DP - Unbound Medicine ER -