Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters

American Journal of Medical Genetics, Part A

Volumn 146, Issue 21, 2008, Pages 2794-2798

  Schneider, Adele ^a   Bardakjian, Tanya M ^a   Zhou, Jie ^b,f   Hughes, Nkecha ^b   Keep, Rosanne ^a   Dorsainville, Darnelle ^a   Kherani, Femida ^b   Katowitz, James ^b   Schimmenti, Lisa A ^c   Hummel, Marybeth ^d   Fitzpatrick, David R ^e   Young, Terri L ^b,f  

^a ALBERT EINSTEIN MEDICAL CENTER   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF MINNESOTA   (United States)

^d WEST VIRGINIA UNIVERSITY   (United States)

^e UNIVERSITY OF EDINBURGH   (United Kingdom)

^f DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Anophthalmia; Microphthalmia; SOX2 anophthalmia syndrome

Indexed keywords

GENOMIC DNA; HUMAN GROWTH HORMONE;

ANOPHTHALMIA; ARTICLE; CASE REPORT; CHILD; FAMILY STUDY; FEMALE; FETUS ECHOGRAPHY; GENE; GENE MUTATION; GENETIC COUNSELING; GROWTH HORMONE DEFICIENCY; HUMAN; KARYOTYPE; MICROPHTHALMIA; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECURRENT DISEASE; SOX2 ANOPHTHALMIA SYNDROME; SOX2 GENE; SYNDROME DELINEATION;

ADULT; ANOPHTHALMOS; BASE SEQUENCE; BRAIN; CHILD; CHILD, PRESCHOOL; DNA PRIMERS; FEMALE; HETEROZYGOTE; HUMANS; MOSAICISM; PHENOTYPE; PREGNANCY; SEQUENCE DELETION; SOXB1 TRANSCRIPTION FACTORS; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 55849139075     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32384     Document Type: Article

References (11)

1. Avilion AA, Nicolis SK, Pevny LH, Perez L, Vivian N, Lovell-Badge R. 2003. Multipotent cell lineages in early mouse development depend on SOX2 function. Genes Dev 17:126-140.
2. Ben-Amitai D, Metzker A, Cohen HA. 2005. Pediatric cutaneous mastocytosis: A review of 180 patients. Isr Med Assoc J 7:320-322.
3. Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, Toutain A, Calvas P. 2007. Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. Am J Med Genet Part A 143A:289-291.
4. Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon JB, Bron A, Huet F, Hayward C, Heyningen VV, Fitzpatrick DR. 2006. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypic ally normal mother. Am J Med Genet Part A 140A:636-639.
5. Ganguly A. 2002. An update on conformation sensitive gel electrophoresis. Hum Mutat 19:334-342.
6. Korkko J, Annunen S, Pihlajamaa T, Prockop DJ, Ala-Kokko L. 1998. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc Natl Acad Sci USA 95:1681-1685.
7. Ragge N, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR. 2005. SOX2 anophthalmia syndrome. Am J Med Genet Part A 135A:1-7.
8. Rosbotham JL, Malik NM, Syrris P, Jeffery S, Bedlow A, Gharraie S, Murday VA, Holden CA, Carter ND. 1999. Lack of c-kit mutation in familial urticaria pigmentosa. Br J Dermatol 140:849-852.
9. Williamson KA, Hever A, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR. 2006. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet 15:1413-1422.
10. Xiao P, Liu P, Weber JL, Papasian CJ, Recker RR, Deng HW. 2006. Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders. Hum Mutat 27:133-137.
11. Zenteno JC, Perez-Cano HJ, Aguinaga M. 2006. Anophthalmia- esophagealatresia syndrome caused by a SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotype. Am J Med Genet Part A 140A:1899-1903.