Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.
Abnormalities, Multiple
/ genetics
Bone Diseases, Developmental
/ genetics
Child
Exons
/ genetics
Filamins
/ genetics
Forehead
/ abnormalities
Genetic Predisposition to Disease
Humans
Male
Micrognathism
/ genetics
Mutation, Missense
/ genetics
Osteochondrodysplasias
/ genetics
Phenotype
Sri Lanka
/ epidemiology
FLNA gene
frontometaphyseal dysplasia 1
skeletal dysplasia
supraorbital hyperostosis
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
revised:
19
11
2020
received:
03
09
2020
accepted:
12
12
2020
pubmed:
30
12
2020
medline:
4
8
2021
entrez:
29
12
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33372358
doi: 10.1002/ajmg.a.62058
doi:
Substances chimiques
FLNA protein, human
0
Filamins
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1317-1320Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
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