Is SHORT syndrome another phenotypic variation of PITX2?

American Journal of Medical Genetics

Volumn 130 A, Issue 4, 2004, Pages 406-409

  Karadeniz, Nadide Nilüfer ^a,e   Kocak Midillioglu, Inci ^b   Erdogan, Derya ^c   Bökesoy, Isik ^d  

^a DR ZEKAI TAHIR BURAK WOMEN'S HOSPITAL   (Turkey)

^b ANKARA TRAINING AND RESEARCH HOSPITAL   (Turkey)

^c DR SAMI ULUS CHILDREN S HOSPITAL   (Turkey)

^d ANKARA UNIVERSITY   (Turkey)

^e NONE   (Turkey)

Author keywords

Insuline resistance; PITX2 gene; Rieger eye malformation; Rieger syndrome; SHORT syndrome; Translocation

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 1; CHROMOSOME 4; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME TRANSLOCATION 1; DISEASE ASSOCIATION; EYE MALFORMATION; GENE EXPRESSION; GENETIC VARIABILITY; HUMAN; INFANT; INSULIN RESISTANCE; KARYOTYPING; LIPODYSTROPHY; MALE; MOTHER; NEUROLOGIC EXAMINATION; OVARY POLYCYSTIC DISEASE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RIEGER SYNDROME;

ADULT; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 4; EYE ABNORMALITIES; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; PHENOTYPE; POLYCYSTIC OVARY SYNDROME; SYNDROME; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 7444269467     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30206     Document Type: Article

References (27)

1. Alward WLM. 2000. Perspective. Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol 130:107-115.
2. Amendt BA, Semina EV, Alward WLM. 2000. Review. Rieger syndrome: A clinical, molecular, and biochemical analysis. CMLS Cell Mol Life Sci 57:1652-1666.
3. Brooks JK, Coccaro PJ, Zorbin MA. 1989. The Rieger anomaly concomittant with multiple dental, craniofacial, and somatic midline anomalies and SHORT stature. Oral Surg 68:717-724.
4. Espinoza HE, Cox CJ, Semina EV, Amendt BA. 2002. A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. Hum Mol Genet 11(7):743-753.
5. Fitch N, Kabacak M. 1978. The Axenfeld syndrome and Rieger syndrome. J Med Genet 15:30-34.
6. Flomen RH, Gorman PA, Vatcheva R, Groet J, Barišič I, Ligutič I, Sheer D, Nižetić D. 1997. Rieger syndrome locus: A new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25;q27) both break between markers D4S2945 and D4S193. J Med Genet 34:191-195.
7. Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop J. 1975. Rieger anomaly and growth retardation (the S-H-O-R-T syndrome). In: Bergasma D, editor. Malformations syndromes. New York: Excerpecta Medica for the National Foundation. March of Dimes. BD: OAS XI(2):46-48.
8. Homburg R. 2002. What is polycytic ovarian syndrome? A proposal for a consensus on the definition and diagnosis of polycytic ovarian syndrome. Hum Reprod 17(10):2495-2499.
9. Joo SH, Raygada M, Gibney S, Farzaneh I, Rennert OM. 1999. Case report on SHORT syndrome. Clin Dysmorphol 8:219-221.
10. Jorgenson RJ, Levin LS, Cross HE, Yoder F, Kelly TE. 1978. The Rieger syndrome. Am J Med Genet 2:307-318.
11. Kocak-Midillioglu I, Karadeniz N, Yalvac I, Kocak-Altintas AG, Duman S. 2003. Eight years follow-up of Axenfeld-Rieger syndrome with Turner syndrome. Eur J Ophthal 13(6):580-583.
12. Koenig R, Brendel L, Fuchs S. 2003. Short syndrome. Clin Dysmorphol 12:45-49.
13. Kuscu NK, Koyuncu FM. 2002. Insulin and oral antidiabetics agents for treatment of polycstic ovary syndrome. Medscape Womens Health 7(5):3.
14. Li M. Youngren JF. Dunaif A, Goldfine ID, Maddux BA, Zhang BB, Evans JL. 2002. Decreased insulin receptor (IR) autophosphory lation in fibroblasts from patients with PCOS: Effects of serine kinase inhibitors and IR activators. J Clin Endocrinol Metab 87(9):4088-4093.
15. Ligutic I, Brecevic L, Petkovic I, Kalogjera T, Rajiic Z. 1981. Intertisial deletion 4q and Rieger syndrome. Clin Genet 20:323-327.
16. Lipson AH, Cowell C, Gorlin RJ. 1989. The SHORT syndrome: Further delination and natural history. J Med Genet 26:473-475.
17. Makita Y, Masuno M, Imaizumi K, Yamashita S, Ohba S, Ito D, Kuroki Y. 1995. Rieger syndrome with de novo reciprocal translocation t(1;4)(q23.1;q25). Am J Med Genet 57:19-21.
18. McKusick VA. 1988. Mendelian inheritance in man, 8th edn. Baltimore: John Hopkins University Press, pp 662-663.
19. Murray J, El-Shanti H, Lindgren C, Leysens N, Patil S, Zabel B, Alward W, Stevenson T, Bitoun P, Buetow K. 1993. Combined mapping approaches to Rieger syndrome. Am J Hum Genet 53:141 (Abstract).
20. Perveen R, Lloyd C, Clayton-Smith J, Churchill A, van Heyningen V, Hanson I, TaylorD, McKeown C, Super M, Kerr B, Winter R, Black GCM. 2000. Phenotypic variability and asymmetry of Rieger syndrome associated with PITX mutations. Invest Vis Sci 41:2456-2460.
21. Riise R, Storhaug K, BrØndum-Nielsen K. 2001. Rieger syndrome is associated with PAX6 deletion. Acta Ophthalmol Scand 79:201-203.
22. Schwingshandl J, Mache CJ, Rath K, Borkenstein MH. 1993. SHORT syndrome and insulin resistance. Am J Med Genet 47:907-909.
23. Semina EV, Reither R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, bitoun P, Zabel BU, Carey JC&murray JC. 1996. Cloning and characterisation of a novel biocid-related homebox transcription factor gene, RGS, involved in Rieger syndrome. Nature Genet 14:392-399.
24. Sensenbrenner JA, Hussels IE, Levin LS. 1975. CC - A low birth-weight syndrome, Rieger anomaly. In: Bergama D, editor. Malformations syndromes. New York: Experta Medica for the National Foundation. March of Dimes. BD: OAS XI(2):423-426.
25. Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB. 2001. American College of Medical Genetics statement on diagnostic testing for uniparental disomy. Genet Med 3(3):206-211.
26. Sorge G, Ruggieri M, Polizzi A, Scuderi A, Di Pietro M. 1996. SHORT Syndrome: A new case with probable autosomal dominant inheritance. Am J Med Genet 61:171-178.
27. Verge CF, Donaghue KC, Williams PF, Cowell CT, Silink M. 1994. Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome. Acta Pediatr 83:786-788.