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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

2005; Elsevier BV; Volume: 7; Issue: 7 Linguagem: Inglês

10.1097/01.gim.0000177419.43309.37

1530-0366

Naohiro Kurotaki, Joseph Shen, Mayumi Touyama, Tatsuro Kondoh, Remco Visser, Takao Ozaki, Junji Nishimoto, Takashi Shiihara, Kimiaki Uetake, Yoshio Makita, Naoki Harada, Salmo Raskin, Chester Brown, Pia Höglund, Nobuhiko Okamoto, James R. Lupski,

Congenital heart defects research

Purpose:We tested the hypothesis that Sotos syndrome (SoS) due to the common deletion is a contiguous gene syndrome incorporating plasma coagulation factor twelve (FXII) deficiency. The relationship between FXII activity and the genotype at a functional polymorphism of the FXII gene was investigated.MethodsA total of 21 patients including those with the common deletion, smaller deletions, and point mutations, and four control individuals were analyzed. We examined FXII activity in patients and controls, and analyzed their FXII 46C/T genotype using direct DNA sequencing.ResultsAmong 10 common deletion patients, seven patients had lower FXII activity with the 46T allele of the FXII gene, whereas three patients had normal FXII activity with the 46C allele. Two patients with smaller deletions, whose FXII gene is not deleted had low FXII activity, but one patient with a smaller deletion had normal FXII. Four point mutation patients and controls all had FXII activities within the normal range.ConclusionFXII activity in SoS patients with the common deletion is predominantly determined by the functional polymorphism of the remaining hemizygous FXII allele. Thus, Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.