Lynch Sally Ann, Nguyen Lam Son, Ng Li Yen, Waldron Mary, McDonald Denise, Gecz Jozef
National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
Eur J Med Genet. 2012 Aug-Sep;55(8-9):476-9. doi: 10.1016/j.ejmg.2012.03.010. Epub 2012 Apr 25.
We present two brothers with mutations in UPF3B, an X-linked intellectual disability gene. Our family consists of two affected brothers and a carrier mother. Both affected brothers had renal dysplasia. A maternal uncle died from a congenital heart defect at 4 months. The two boys had variable degrees of developmental delay. One had macrocephaly, significant expressive speech delay and constipation. The other brother had normocephaly, obsessional tendencies and was diagnosed with high functioning autism. The phenotypically normal mother had 100% skewed X-inactivation. Our cases expand the phenotype seen with UPF3B mutations and highlight the variability within families.
我们报告了两名患有UPF3B基因突变的兄弟，UPF3B是一种X连锁智力障碍基因。我们的家族包括两名患病兄弟和一位携带致病基因的母亲。两名患病兄弟均患有肾发育不全。一位舅舅在4个月大时死于先天性心脏缺陷。这两个男孩有不同程度的发育迟缓。其中一个有巨头畸形、明显的语言表达延迟和便秘。另一个兄弟头围正常，有强迫倾向，被诊断为高功能自闭症。表型正常的母亲有100%的X染色体失活偏向。我们的病例扩展了UPF3B基因突变所呈现的表型，并突出了家族内的变异性。
