Seckel syndrome

Definition:

Seckel syndrome is a recessively inherited dwarfism characterized by intrauterine growth retardation, proportionate postnatal dwarfism, severe microcephaly, micrognathia, and 'bird-headed' profile. Mental retardation also occurs. Genes that control cellular responses to DNA damage are linked to the syndrome.

References:

[1]. Andrew Dauber, et al. Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. J Clin Endocrinol Metab. 2012 Nov;97(11):E2140-51. [Content Brief]

[2]. D F Majoor-Krakauer, et al. Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome. Am J Med Genet. 1987 May;27(1):183-8. [Content Brief]

[3]. Ersan Kalay, et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 2011 Jan;43(1):23-6. [Content Brief]

[4]. Felicity Payne, et al. Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. J Clin Invest. 2014 Sep;124(9):4028-38. [Content Brief]

[5]. Joo-Hee Sir, et al. A primary microcephaly protein complex forms a ring around parental centrioles. Nat Genet. 2011 Oct 9;43(11):1147-53. [Content Brief]

[6]. Margaret E Harley, et al. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet. 2016 Jan;48(1):36-43. [Content Brief]

[7]. Mark O'Driscoll, et al. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat Genet. 2003 Apr;33(4):497-501. [Content Brief]

[8]. Mohammed S Al-Dosari, et al. Novel CENPJ mutation causes Seckel syndrome. J Med Genet. 2010 Jun;47(6):411-4. [Content Brief]

[9]. Per Qvist, et al. CtIP Mutations Cause Seckel and Jawad Syndromes. PLoS Genet. 2011 Oct;7(10):e1002310. [Content Brief]

[10]. Ranad Shaheen, et al. Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res. 2014 Feb;24(2):291-9. [Content Brief]

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