Familial syndrome resembling Aarskog syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 2017-2022

  Xu, Mingzhi ^a   Qi, Ming ^b,c   Zhou, Huali ^a   Yong, Jing ^b   Qiu, Huiqing ^d   Cong, Peikuan ^b   Hong, Xutao ^b   Li, Chengjiang ^a   Jiang, Yan ^e   Chen, Xiao ^a   Yu, Yunsong ^e  

^a ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b ZHEJIANG UNIVERSITY   (China)

^c UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^d Qujiang People's Hospital   (China)

^e ZHEJIANG UNIVERSITY   (China)

Author keywords

Aarskog syndrome; Aarskog Scott syndrome; Clinical phenotype; FGD1 gene; Genetic heterogeneity

Indexed keywords

AARSKOG SYNDROME; ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHINESE; CLINICAL ARTICLE; DIFFERENTIAL DIAGNOSIS; FACIOGENITAL DYSPLASIA; FAMILIAL DISEASE; FEMALE; GENE SEQUENCE; HUMAN; LIMB MALFORMATION; MALE; PEDIGREE; PRIORITY JOURNAL; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; FEMALE; GENETIC DISEASES, X-LINKED; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INFANT, NEWBORN; MALE; MENTAL RETARDATION; MUTATION; PEDIGREE; SYNDROME;

EID: 77955293152     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33487     Document Type: Article

References (20)

1. Aarskog D. 1970. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 77:856-861.
2. Bottani A, Orrico A, Galli L, Karam O, Haenggeli CA, Ferey S, Conrad B. 2007. Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an volutionary conserved Rho GEF domain of the faciogenital dysplasia gene FGD1. Am J Med Genet Part A 143A:2334-2338. (Pubitemid 47509650)
3. Grier RE, Farrington FH, Kendig R, Mamunes P. 1983. Autosomal dominant inheritance of the Aarskog syndrome. Am J Med Genet 15:39-46. (Pubitemid 13120142)
4. Hayakawa M, Matsushima M, Hagiwara H, Oshima T, Fujino T, Ando K, Kikugawa K, Tanaka H, Miyazawa K, Kitagawa M. 2008. Novel insights into FGD3, a putative GEF for Cdc42, that undergoes SCF(FWD1/beta-TrCP)-mediated proteasomal degradation analogous to that of its homologue FGD1 but regulates cell morphology and motility differently from FGD1. Genes Cells 13:329-342.
5. International Human Genome Sequencing Consortium. 2004. Finishing the euchromatic sequence of the human genome. Nature 431:931-945.
6. Nakanishi H, Takai Y. 2008. Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membrane. J Cell Mol Med 12:1169-1176.
7. Obaishi H, Nakanishi H, Mandai K, Satoh K, Satoh A, Takahashi K, Miyahara M, Nishioka H, Takaishi K, Takai Y. 1998. Frabin, a novel FGD1-related actin filament-binding protein capable of changing cell shape and activating c-Jun N-terminal kinase. J Biol Chem 273: 18697-18700.
8. Olson MF, Pasteris NG, Gorski JL, Hall A. 1996. Faciogenital dysplasia protein (FGD1) and Vav, two related proteins required for normal embryonic development, are upstream regulators of Rho GTPases. Curr Biol 6:1628-1633.
9. Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V. 2004. Phenotypic and molecular characterization of the Aarskog-Scott syndrome: A survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. Eur J Hum Genet 12:16-23.
10. Orrico A, Galli L, Obregon MG, Perez MFC, Falciani M, Sorrentino V. 2006. Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. Am J Med Genet Part A 143A:58-63.
11. Oshima T, Fujino T, Ando K, Hayakawa M. 2010. Proline-rich domain plays a crucial role in extracellular stimuli-responsive translocation of a Cdc42 guanine nucleotide exchange factor, FGD1. Biol Pharm Bull 33:35-39.
12. Pasteris NG, Gorski JL. 1999. Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues. Genomics 60:57-66.
13. Pasteris NG, Cadle A, Logie LJ, Porteous ME, Schwartz CE, Stevenson RE, Glover TW, Wilroy RS, Gorski JL. 1994. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor. Cell 79:669-678.
14. Pasteris NG, Nagata K, Hall A, Gorski JL. 2000. Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue. Gene 242:237-247.
15. Shalev SA, Chervinski E, Weiner E, Mazor G, Friez MJ, Schwartz CE. 2006. Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. Am J Med Genet Part A 140A:162-165.
16. Sugarman GI, Rimoin DL, Lachman RS. 1973. The facial-digital-genital (Aarskog) syndrome. Am J Dis Child 126:248-252.
17. Teebi AS, Naguib KK, Al-Awadi S, Al-Saleh QA. 1988. New autosomal recessive faciodigitogenital syndrome. J Med Genet 25:400-406.
18. Teebi AS, Rucquoi JK, Meyn MS. 1993. Aarskog syndrome: Report of a family with review and discussion of nosology. Am J Med Genet 46: 501-509.
19. van de Vooren MJ, Niermeijer MF, Hoogeboom AJ. 1983. The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance. Clin Genet 24:439-445.
20. Yang XG, Li YP, Ma GS, Hu XQ, Wang JZ, Cui CH, Wang ZH, Yu WT, Yang ZX, Zhao FY. 2005. China, the average height and weight of Chinese residents in 2002 and its trendency in 10 years. Chin J Epidemiol 26:489-493.