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The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
Am J Med Genet A 2018; 176(2):465-469AJ

Abstract

RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions are clinically distinct skeletal dysplasias with microcephalic osteodysplastic primordial dwarfism, type 1 having a more severe phenotype than Roifman syndrome. Some of the overlapping features of the two conditions include developmental delay, microcephaly, and immune deficiency. The features also overlap with Lowry Wood syndrome, another rare but well-defined skeletal dysplasia for which the genetic etiology has not been identified. Characteristic features include multiple epiphyseal dysplasia and microcephaly. Here, we describe three patients with Lowry Wood syndrome with biallelic RNU4ATAC pathogenic variants. This report expands the phenotypic spectrum for biallelic RNU4ATAC disorder causing variants and is the first to establish the genetic cause for Lowry Wood syndrome.

Authors+Show Affiliations

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center, Houston at Houston, Texas.Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.Department of Pediatrics, Pediatric Research Center, McGovern Medical School and School of Dentistry, University of Texas Health Science Center at Houston, Houston, Texas.Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural

Language

eng

PubMed ID

29265708

Citation

Farach, Laura S., et al. "The Expanding Phenotype of RNU4ATAC Pathogenic Variants to Lowry Wood Syndrome." American Journal of Medical Genetics. Part A, vol. 176, no. 2, 2018, pp. 465-469.
Farach LS, Little ME, Duker AL, et al. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. Am J Med Genet A. 2018;176(2):465-469.
Farach, L. S., Little, M. E., Duker, A. L., Logan, C. V., Jackson, A., Hecht, J. T., & Bober, M. (2018). The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. American Journal of Medical Genetics. Part A, 176(2), pp. 465-469. doi:10.1002/ajmg.a.38581.
Farach LS, et al. The Expanding Phenotype of RNU4ATAC Pathogenic Variants to Lowry Wood Syndrome. Am J Med Genet A. 2018;176(2):465-469. PubMed PMID: 29265708.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. AU - Farach,Laura S, AU - Little,Mary E, AU - Duker,Angela L, AU - Logan,Clare V, AU - Jackson,Andrew, AU - Hecht,Jaqueline T, AU - Bober,Michael, Y1 - 2017/12/19/ PY - 2017/06/28/received PY - 2017/11/27/accepted PY - 2017/12/22/pubmed PY - 2019/1/12/medline PY - 2017/12/22/entrez KW - Lowry Wood syndrome KW - RNU4ATAC KW - epiphyseal dysplasia KW - microcephaly KW - skeletal dysplasia SP - 465 EP - 469 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 176 IS - 2 N2 - RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions are clinically distinct skeletal dysplasias with microcephalic osteodysplastic primordial dwarfism, type 1 having a more severe phenotype than Roifman syndrome. Some of the overlapping features of the two conditions include developmental delay, microcephaly, and immune deficiency. The features also overlap with Lowry Wood syndrome, another rare but well-defined skeletal dysplasia for which the genetic etiology has not been identified. Characteristic features include multiple epiphyseal dysplasia and microcephaly. Here, we describe three patients with Lowry Wood syndrome with biallelic RNU4ATAC pathogenic variants. This report expands the phenotypic spectrum for biallelic RNU4ATAC disorder causing variants and is the first to establish the genetic cause for Lowry Wood syndrome. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/29265708/The_expanding_phenotype_of_RNU4ATAC_pathogenic_variants_to_Lowry_Wood_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.38581 DB - PRIME DP - Unbound Medicine ER -