Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.
| Title: | Frontometaphyseal dysplasia 1 in a patient from Sri Lanka. |
|---|---|
| Authors: | Dissanayake R; Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Senanayake MP; Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Fernando J; Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.; Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1317-1320. Date of Electronic Publication: 2020 Dec 29. |
| Publication Type: | Case Reports; Journal Article |
| Language: | English |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Imprint Name(s): | Publication: Hoboken, N.J. : Wiley-Blackwell; Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| MeSH Terms: | Genetic Predisposition to Disease*; Bone Diseases, Developmental/*genetics ; Filamins/*genetics ; Forehead/*abnormalities ; Osteochondrodysplasias/*genetics; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Bone Diseases, Developmental/pathology ; Exons/genetics ; Forehead/pathology ; Micrognathism/genetics ; Micrognathism/pathology ; Mutation, Missense/genetics ; Osteochondrodysplasias/pathology ; Sri Lanka/epidemiology ; Child ; Humans ; Male ; Phenotype |
| Abstract: | A Sri Lankan male child with supraorbital hyperostosis, broad nasal bridge, small mandible, severe kyphoscoliosis, distal joint contractures of the hands and long second and third toes is described. A hemizygous pathogenic variant in exon 22 of the filamin A (FLNA) gene [NM_001110556.1: c.3557C>T; which leads to a nonsynonymous substitution of serine by leucine at codon 1186 in the FLNA protein; NP_001104026.1: p.Ser1186Leu] was identified. The clinical features observed in this patient were consistent with the cardinal manifestations seen in frontometaphyseal dysplasia 1 (FMD1). However, characteristic extra skeletal manifestations such as cardiac defects, uropathy, and hearing impairment which have previously been reported in association with this condition were absent in this patient.; (© 2020 Wiley Periodicals LLC.) |
| References: | Bertola, D., Passos-Bueno, M. R., Pereira, A., Kim, C., Morgan, T., & Robertson, S. P. (2015). Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation. American Journal of Medical Genetics. Part A, 167A(5), 1161-1164. https://doi.org/10.1002/ajmg.a.36981.; Moutton, S., Fergelot, P., Naudion, S., Cordier, M. P., Solé, G., Guerineau, E., … Coupry, I. (2016). Otopalatodigital spectrum disorders: Refinement of the phenotypic and mutational spectrum. Journal of Human Genetics, 61(8), 693-699. https://doi.org/10.1038/jhg.2016.37.; Robertson, S. P. (2007). Otopalatodigital syndrome spectrum disorders: Otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. European Journal of Human Genetics, 15(1), 3-9. https://doi.org/10.1038/sj.ejhg.5201654.; Robertson, S. P., Jenkins, Z. A., Morgan, T., Ades, L., Aftimos, S., Boute, O., … Krakow, D. (2006a). Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity. American Journal of Medical Genetics. Part A, 140(16), 1726-1736. https://doi.org/10.1002/ajmg.a.31322.; Robertson, S. P., Thompson, S., Morgan, T., Holder-Espinasse, M., Martinot-Duquenoy, V., Wilkie, A. O., & Manouvrier-Hanu, S. (2006b). Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. European Journal of Human Genetics, 14(5), 549-554. https://doi.org/10.1038/sj.ejhg.5201586.; Robertson, S. P., Twigg, S. R., Sutherland-Smith, A. J., Biancalana, V., Gorlin, R. J., Horn, D., … Wilkie, A. O. M. (2003). Localized mutations in the gene encoding the cytoskeletal protein filamin a cause diverse malformations in humans. Nature Genetics, 33(4), 487-491. https://doi.org/10.1038/ng1119.; Wade, E. M., Jenkins, Z. A., Daniel, P. B., Morgan, T., Addor, M. C., Ades, L. C., … Robertson, S. P. (2017). Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. American Journal of Medical Genetics. Part A, 173(7), 1739-1746. https://doi.org/10.1002/ajmg.a.38267. |
| Contributed Indexing: | Keywords: FLNA gene; frontometaphyseal dysplasia 1; skeletal dysplasia; supraorbital hyperostosis |
| Substance Nomenclature: | 0 (FLNA protein, human); 0 (Filamins) |
| SCR Disease Name: | Frontometaphyseal dysplasia |
| Entry Date(s): | Date Created: 20201229 Date Completed: 20210803 Latest Revision: 20210803 |
| Update Code: | 20260130 |
| DOI: | 10.1002/ajmg.a.62058 |
| PMID: | 33372358 |
| Database: | MEDLINE |
Case Reports; Journal Article