Genotype analyses revealed that minor alleles in <i>TBX1</i>: rs12165908 C > G [odds ratio (OR) = 2.64; 95% confidence interval (CI) = 1.87-3.73, <i>p</i> = 3.03 × 10<sup>-8</sup>] and <i>GATA6</i>: rs143085291 C > T (OR = 2.49; 95% CI = 1.18-5.29, <i>p</i> = 0.01) increased CHD risk significantly.
The minor allele C in <i>GATA4</i>: rs17153694 T > C increased the risk of tetralogy of Fallot, whereas minor alleles in <i>TBX1</i>: rs41298006 G>A, <i>FGF10</i>: rs75629618 C>T, <i>FGF10:</i> rs10461755 G>A, <i>FGF10:</i> rs75632187 A>G, and <i>FGF10:</i> rs12518964 G > A were associated with increased risk of single ventricle.
The minor allele C in <i>GATA4</i>: rs17153694 T > C increased the risk of tetralogy of Fallot, whereas minor alleles in <i>TBX1</i>: rs41298006 G>A, <i>FGF10</i>: rs75629618 C>T, <i>FGF10:</i> rs10461755 G>A, <i>FGF10:</i> rs75632187 A>G, and <i>FGF10:</i> rs12518964 G > A were associated with increased risk of single ventricle.
Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively.
Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively.
Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively.
Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys) in a female with isolated DORV, c.98C > T (Ala33Val) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy.
Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys) in a female with isolated DORV, c.98C > T (Ala33Val) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy.
Even though transmission disequilibrium test (TDT) further supported the association of P352T and +2,004 -/inst T with obesity, none of these nominal associations remained significant after a multiple testing Bonferroni correction.
We report a novel heterozygous missense mutation, H194Q, in a familial case of Shprintzen syndrome and show that this and the two previously reported missense mutations result in gain of function, possibly through stabilization of the protein dimer DNA complex.