Advanced search
1 file | 376.69 KB

A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation

E Tug, Bart Loeys (UGent) , Anne De Paepe (UGent) , H Aydin and K Gideroglu
(2010) GENETIC COUNSELING. 21(2). p.225-232
Author
Organization
Abstract
A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation: We describe a 2-years-old male patient with skeletal, neurological, cardiovascular, and connective tissue anomalies. Skeletal anomalies included pectus excavatum, hammer toes and hallux valgus and camptodactyly. The characteristic craniofacial findings of hypertelorism, down slanting palpebral fissures, strabismus, ptosis of eyelids, bifid uvula, high-arched palate and retrognathia were present. The proband has been operated on twice for bilateral inguinal hernia and several times for his foot deformities. Psychomotor development was retarded. At present, echocardiographic findings show aortic root dilation. The patient has important characteristics of Loeys-Dietz syndrome (LDS). Direct sequencing analysis of the transforming growth factor beta receptor I and II (TGFBR1 and 2) genes was performed and was demonstrated heterozygous missense mutation of the TGFBR2 gene in the patient, which confirms the diagnosis of LDS. This is the first Turkish patient with typical clinical signs of LDS. This report also illustrates that LDS and Shprintzen-Goldberg syndrome (SGS) have some common clinical characteristics.
Keywords
MISSENSE MUTATION, MARFAN-SYNDROME, MOLECULAR-GENETICS, Loeys-Dietz syndrome, Shprintzen-Goldberg Syndrome, Aortic root dilation, Transforming growth factor-beta receptor, SHPRINTZEN-GOLDBERG-SYNDROME, Camptodactyly, CLINICAL ANALYSIS, BETA RECEPTOR, DISORDERS, FAMILY

Downloads

  • (...).pdf
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 376.69 KB

Citation

Please use this url to cite or link to this publication:

Chicago
Tug, E, Bart Loeys, Anne De Paepe, H Aydin, and K Gideroglu. 2010. “A Turkish Patient of Typical Loeys-Dietz Syndrome with a TGFBR2 Mutation.” Genetic Counseling 21 (2): 225–232.
APA
Tug, E., Loeys, B., De Paepe, A., Aydin, H., & Gideroglu, K. (2010). A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation. GENETIC COUNSELING, 21(2), 225–232.
Vancouver
1.
Tug E, Loeys B, De Paepe A, Aydin H, Gideroglu K. A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation. GENETIC COUNSELING. 2010;21(2):225–32.
MLA
Tug, E, Bart Loeys, Anne De Paepe, et al. “A Turkish Patient of Typical Loeys-Dietz Syndrome with a TGFBR2 Mutation.” GENETIC COUNSELING 21.2 (2010): 225–232. Print.
@article{1064231,
  abstract     = {A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation: We describe a 2-years-old male patient with skeletal, neurological, cardiovascular, and connective tissue anomalies. Skeletal anomalies included pectus excavatum, hammer toes and hallux valgus and camptodactyly. The characteristic craniofacial findings of hypertelorism, down slanting palpebral fissures, strabismus, ptosis of eyelids, bifid uvula, high-arched palate and retrognathia were present. The proband has been operated on twice for bilateral inguinal hernia and several times for his foot deformities. Psychomotor development was retarded. At present, echocardiographic findings show aortic root dilation. The patient has important characteristics of Loeys-Dietz syndrome (LDS). Direct sequencing analysis of the transforming growth factor beta receptor I and II (TGFBR1 and 2) genes was performed and was demonstrated heterozygous missense mutation of the TGFBR2 gene in the patient, which confirms the diagnosis of LDS. This is the first Turkish patient with typical clinical signs of LDS. This report also illustrates that LDS and Shprintzen-Goldberg syndrome (SGS) have some common clinical characteristics.},
  author       = {Tug, E and Loeys, Bart and De Paepe, Anne and Aydin, H and Gideroglu, K},
  issn         = {1015-8146},
  journal      = {GENETIC COUNSELING},
  keyword      = {MISSENSE MUTATION,MARFAN-SYNDROME,MOLECULAR-GENETICS,Loeys-Dietz syndrome,Shprintzen-Goldberg Syndrome,Aortic root dilation,Transforming growth factor-beta receptor,SHPRINTZEN-GOLDBERG-SYNDROME,Camptodactyly,CLINICAL ANALYSIS,BETA RECEPTOR,DISORDERS,FAMILY},
  language     = {eng},
  number       = {2},
  pages        = {225--232},
  title        = {A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation},
  volume       = {21},
  year         = {2010},
}

Web of Science
Times cited: