Bamforth–Lazarus syndrome
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| Bamforth–Lazarus syndrome | |
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| Other names: Athyroidal hypothyroidism-spiky hair-cleft palate syndrome | |
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| Bamforth- Lazarus syndrome. An 8 month old infant with a homozygous mutation in the TTF-2 gene locus leading to congenital hypothyroidism. Phenotypic features include, low set ears, extensive cleft palate, hypertelorism, spiky hair and low posterior hairline. (Taken from; A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate; Human Molecular Genetics, 2002, Vol. 11, No. 17. Courtesy Dr. Michel Polak and the Oxford University Press.) | |
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Bamforth–Lazarus syndrome is a genetic condition that results in thyroid dysgenesis.[1][2] It is due to recessive mutations in forkhead/winged-helix domain transcription factor (FKLH15 or TTF2).[3]It is associated with FOXE1.[4]
References
- ↑ Bamforth JS, Hughes I, Lazarus J, John R (June 1986). "Congenital anomalies associated with hypothyroidism". Arch. Dis. Child. 61 (6): 608–9. doi:10.1136/adc.61.6.608. PMC 1777822. PMID 3729532.
- ↑ Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS (January 1989). "Congenital hypothyroidism, spiky hair, and cleft palate". J. Med. Genet. 26 (1): 49–51. doi:10.1136/jmg.26.1.49. PMC 1015536. PMID 2918525.
- ↑ Kopp P (June 2002). "Perspective: genetic defects in the etiology of congenital hypothyroidism". Endocrinology. 143 (6): 2019–24. doi:10.1210/en.143.6.2019. PMID 12021164.
- ↑ Venza I, Visalli M, Parrillo L, De Felice M, Teti D, Venza M (March 2011). "MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1". Hum. Mol. Genet. 20 (5): 1016–25. doi:10.1093/hmg/ddq547. PMID 21177256.
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