Tags

Type your tag names separated by a space and hit enter

Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.
Turk J Pediatr. 2010 Sep-Oct; 52(5):525-8.TJ

Abstract

Simpson-Golabi-Behmel Syndrome (SGBS) is a rare recessive X-linked disorder characterized by pre- and postnatal overgrowth, distinctive dysmorphic facies and variable congenital malformations. Most cases have been attributed to mutations in the Glypican-3 (GPC3) gene located at Xq26. Glypican-3 plays essential roles in development by modulating cellular responses to growth factors and morphogens. We report here a novel nonsense mutation of the GPC3 gene in a five-year-old Moroccan patient of consanguineous parents who had SGBS phenotype associated with congenital hypothyroidism.

Authors+Show Affiliations

Ratbi I
Department of Medical Genetics, National Institute of Health, Morocco.
Elalaoui SC
No affiliation info available
Moizard MP
No affiliation info available
Raynaud M
No affiliation info available
Sefiani A
No affiliation info available

MeSH

AdultArrhythmias, CardiacCodon, NonsenseCongenital HypothyroidismConsanguinityFemaleGenetic Diseases, X-LinkedGigantismGlypicansHeart Defects, CongenitalHumansInfant, NewbornIntellectual DisabilityMaleMiddle AgedMorocco

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21434539

Citation

Ratbi, Ilham, et al. "Novel Nonsense Mutation of GPC3 Gene in a Patient With Simpson-Golabi-Behmel Syndrome." The Turkish Journal of Pediatrics, vol. 52, no. 5, 2010, pp. 525-8.
Ratbi I, Elalaoui SC, Moizard MP, et al. Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. Turk J Pediatr. 2010;52(5):525-8.
Ratbi, I., Elalaoui, S. C., Moizard, M. P., Raynaud, M., & Sefiani, A. (2010). Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. The Turkish Journal of Pediatrics, 52(5), 525-8.
Ratbi I, et al. Novel Nonsense Mutation of GPC3 Gene in a Patient With Simpson-Golabi-Behmel Syndrome. Turk J Pediatr. 2010 Sep-Oct;52(5):525-8. PubMed PMID: 21434539.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. AU - Ratbi,Ilham, AU - Elalaoui,Siham Chafai, AU - Moizard,Marie-Pierre, AU - Raynaud,Martine, AU - Sefiani,Abdelaziz, PY - 2011/3/26/entrez PY - 2011/3/26/pubmed PY - 2011/4/20/medline SP - 525 EP - 8 JF - The Turkish journal of pediatrics JO - Turk J Pediatr VL - 52 IS - 5 N2 - Simpson-Golabi-Behmel Syndrome (SGBS) is a rare recessive X-linked disorder characterized by pre- and postnatal overgrowth, distinctive dysmorphic facies and variable congenital malformations. Most cases have been attributed to mutations in the Glypican-3 (GPC3) gene located at Xq26. Glypican-3 plays essential roles in development by modulating cellular responses to growth factors and morphogens. We report here a novel nonsense mutation of the GPC3 gene in a five-year-old Moroccan patient of consanguineous parents who had SGBS phenotype associated with congenital hypothyroidism. SN - 0041-4301 UR - https://www.unboundmedicine.com/medline/citation/21434539/Novel_nonsense_mutation_of_GPC3_gene_in_a_patient_with_Simpson_Golabi_Behmel_syndrome_ L2 - http://www.diseaseinfosearch.org/result/6610 DB - PRIME DP - Unbound Medicine ER -