Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I
复制标题
DOI：
10.1002/ajmg.a.35356
复制
发表时间：
2012-06-01
影响因子：
2
通讯作者：
Amr, Khalda
中科院分区：
文献类型：
--
作者：
Abdel-Salam, Ghada M. H.;Abdel-Hamid, Mohamed S.;Amr, Khalda
Mutations in the RNU4ATAC gene cause microcephalic osteodysplastic primordial dwarfism type I. It encodes U4atac, a small nuclear RNA that is a component of the minor spliceosome. Six distinct mutations in 30 patients diagnosed as microcephalic osteodysplastic primordial dwarfism type I have been described. We report on three additional patients from two unrelated families presenting with a milder phenotype of microcephalic osteodysplastic primordial dwarfism type I and metopic synostosis. Patient 1 had two novel heterozygous mutations in the 3' prime stem-loop, g.66G?>?C and g.124G?>?A while Patients 2 and 3 had a homozygous mutation g.55G?>?A in the 5' prime stem-loop. Although they manifested the known spectrum of clinical features of microcephalic osteodysplastic primordial dwarfism type I, they lacked evidence of severe developmental delay and neurological symptoms. These findings expand the mutational and phenotypic spectrum of this syndrome. (c) 2012 Wiley Periodicals, Inc.
