Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

American Journal of Medical Genetics. Part a
Ghada M H Abdel-SalamKhalda Amr

Abstract

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.

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Citations

Mar 31, 2015·American Journal of Medical Genetics. Part a·Ulrike KordaßThomas Eggermann
Sep 7, 2013·Clinical Genetics·P Makrythanasis, S E Antonarakis
Jul 13, 2012·American Journal of Medical Genetics. Part a·Ghada M H Abdel-SalamKhaled R Gaber
Jun 25, 2013·American Journal of Medical Genetics. Part a·Ghada M H Abdel-SalamMaha S Zaki
Oct 12, 2013·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Osamu OnoderaMasatoyo Nishizawa
Sep 4, 2016·Pediatric Neurology·Harvey B Sarnat, Laura Flores-Sarnat
Jun 28, 2016·Birth Defects Research. Part A, Clinical and Molecular Teratology·Carole GoumyPhilippe Vago
Jul 4, 2020·International Journal of Systematic and Evolutionary Microbiology·Hisayuki Komaki, Tomohiko Tamura
Jul 10, 2020·International Journal of Systematic and Evolutionary Microbiology·Hisayuki Komaki, Tomohiko Tamura
Dec 22, 2017·NPJ Genomic Medicine·Yael Dinur SchejterChaim M Roifman
Jul 3, 2021·International Journal of Molecular Sciences·Ettaib El MarabtiIhab Younis
Aug 19, 2021·American Journal of Medical Genetics. Part a·Hugh J McMillanKristin D Kernohan

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