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A new interesting article has been published in J Pediatr. 2019 Dec; 215:192-198. doi: 10.1016/j.jpeds.2019.08.024. Epub 2019 Oct 17. and titled:

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.

Authors of this article are:

Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL.

A summary of the article is shown below:

OBJECTIVE: To perform a prospective genetic investigation using whole exome sequencing of a group of patients with syndromic short stature born small for gestational age of unknown cause.STUDY DESIGN: For whole exome sequencing analysis, we selected 44 children born small for gestational age with persistent short stature, and additional features, such as dysmorphic face, major malformation, developmental delay, and/or intellectual disability. Seven patients had negative candidate gene testing based on clinical suspicion and 37 patients had syndromic conditions of unknown etiology.RESULTS: Of the 44 patients, 15 (34%) had pathogenic/likely pathogenic variants in genes already associated with growth disturbance: COL2A1 (n = 2), SRCAP (n = 2), AFF4, ACTG1, ANKRD11, BCL11B, BRCA1, CDKN1C, GINS1, INPP5K, KIF11, KMT2A, and POC1A (n = 1 each). Most of the genes found to be deleterious participate in fundamental cellular processes, such as cell replication and DNA repair.CONCLUSIONS: The rarity and heterogeneity of syndromic short stature make the clinical diagnosis difficult. Whole exome sequencing allows the diagnosis of previously undiagnosed patients with syndromic short stature.Copyright © 2019 Elsevier Inc. All rights reserved.

Check out the article’s website on Pubmed for more information:

This article is a good source of information and a good way to become familiar with topics such as: growth disorder; intrauterine growth retardation; short stature; small for gestational age; syndrome; whole exome sequencing.

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