A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency

Gene

Volumn 534, Issue 2, 2014, Pages 282-285

  Macchiaroli, Annamaria ^a   Kelberman, Daniel ^b   Auriemma, Renata Simona ^c   Drury, Suzanne ^d   Islam, Lily ^b   Giangiobbe, Sara ^a   Ironi, Gabriele ^a   Lench, Nicholas ^d   Sowden, Jane C ^b   Colao, Annamaria ^c   Pivonello, Rosario ^c   Cavallo, Luciano ^e   Gasperi, Maurizio ^f   Faienza, Maria Felicia ^e  

^a Cardarelli Hospital   (Italy)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e UNIVERSITY OF BARI   (Italy)

^f UNIVERSITY OF MOLISE   (Italy)

Author keywords

Growth hormone deficiency; Hypogonadotropic hypogonadism; Hypopituitarism; SOX2 mutations

Indexed keywords

GROWTH HORMONE; TRANSCRIPTION FACTOR SOX2;

ADULT; ANOPHTHALMIA; ARTICLE; BONE AGE; CASE REPORT; FRAMESHIFT MUTATION; GENE DELETION; GROWTH HORMONE DEFICIENCY; HORMONE SUBSTITUTION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE;

ACTH; ADRENOCORTICOTROPIC HORMONE; FOLLICLE-STIMULATING HORMONE; FSH; GH; GHD; GHRH; GNRH; GONADOTROPIN RELEASING HORMONE; GROWTH HORMONE; GROWTH HORMONE DEFICIENCY; GROWTH HORMONE RELEASING HORMONE; HMG; HYPOGONADOTROPIC HYPOGONADISM; HYPOPITUITARISM; LH; LUTEOTROPIN HORMONE; MAGNETIC RESONANCE IMAGING; MRI; SOX2 MUTATIONS; SRY-RELATED HIGH MOBILITY GROUP; THYROID-STIMULATING HORMONE; THYROTROPIN RELEASING HORMONE; TRH; TSH;

ADOLESCENT; ANOPHTHALMOS; CONGENITAL ABNORMALITIES; HETEROZYGOTE; HUMAN GROWTH HORMONE; HUMANS; HYPOGONADISM; MALE; SEQUENCE DELETION; SOXB1 TRANSCRIPTION FACTORS;

EID: 84890433453     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.10.043     Document Type: Article

References (20)

1. Alatzoglou K.S., et al. SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours. Hum. Mutat. 2011, 32(12):1376-1380.
2. Dattani M.T. Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?. Clin. Endocrinol. 2005, 63(2):121-130.
3. Faivre L., et al. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Am. J. Med. Genet. A 2006, 140(6):636-639.
4. Fantes J., et al. Mutations in SOX2 cause anophthalmia. Nat. Genet. 2003, 33(4):461-463.
5. Hagstrom S.A., et al. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Am. J. Med. Genet. A 2005, 138A(2):95-98.
6. Jayakody S.A., et al. SOX2 regulates the hypothalamic-pituitary axis at multiple levels. J. Clin. Invest. 2012, 122(10):3635-3646.
7. Kamachi Y., Sockanathan S., Liu Q., Breitman M., Lovell-Badge R., Kondoh H. Involvement of SOX proteins in lens-specific activation of crystallin genes. EMBO J. 1995, 14(14):3510-3519.
8. Kamachi Y., Uchikawa M., Kondoh H. Pairing SOX off: with partners in the regulation of embryonic development. Trends Genet. 2000, 16(4):182-187.
9. Kamachi Y., Uchikawa M., Tanouchi A., Sekido R., Kondoh H. Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development. Genes Dev. 2001, 15(10):1272-1286.
10. Kelberman D., Dattani M.T. Hypothalamic and pituitary development: novel insights into the aetiology. Eur. J. Endocrinol. 2007, 157(Suppl. 1):S3-S14.
11. Kelberman D., et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J. Clin. Invest. 2006, 116(9):2442-2455.
12. Kelberman D., et al. SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J. Clin. Endocrinol. Metab. 2008, 93(5):1865-1873.
13. Kelberman D., Rizzoti K., Lovell-Badge R., Robinson I.C., Dattani M.T. Genetic regulation of pituitary gland development in human and mouse. Endocr. Rev. 2009, 30(7):790-829.
14. Maddison P., Thorpe A., Silcocks P., Robertson J.F., Chapman C.J. Autoimmunity to SOX2, clinical phenotype and survival in patients with small-cell lung cancer. Lung Cancer 2010, 70(3):335-339.
15. Mansukhani A., Ambrosetti D., Holmes G., Cornivelli L., Basilico C. Sox2 induction by FGF and FGFR2 activating mutations inhibits Wnt signaling and osteoblast differentiation. J. Cell Biol. 2005, 168(7):1065-1076.
16. Olson L.E., et al. Homeodomain-mediated beta-catenin-dependent switching events dictate cell-lineage determination. Cell 2006, 125(3):593-605.
17. Potok M.A., et al. WNT signaling affects gene expression in the ventral diencephalon and pituitary gland growth. Dev. Dyn. 2008, 237(4):1006-1020.
18. Sato N., et al. Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2. Eur. J. Endocrinol. 2007, 156(2):167-171.
19. Sisodiya S.M., et al. Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia 2006, 47(3):534-542.
20. Taranova O.V., et al. SOX2 is a dose-dependent regulator of retinal neural progenitor competence. Genes Dev. 2006, 20(9):1187-1202.