CLINICAL NEXT GENERATION SEQUENCING REVEALS AN H3F3A GENE AS A NEW POTENTIAL GENE CANDIDATE FOR MICROCEPHALY ASSOCIATED WITH SEVERE DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND GROWTH RETARDATION
Maver A1, Čuturilo G2,3, Ruml Stojanović J3, Peterlin B1,*
*Corresponding Author: Professor Borut Peterlin, Clinical Institute of Genomic Medicine, University Medical Center Ljubljana, Šlajmerjeva 4, 1000 Ljubljana, Slovenia. Tel: +38615401137. E-mail: borut.peterlin@kclj.si
page: 65

INTRODUCTION

The clinical sign of abnormally small head, usually defined as head circumference below the third percentile, or at least two standard deviations below the mean from an age-and sex-matched reference population, affects approximately 2.0-3.0% of the world population [1,2]. It is classified into primary if present at birth and secondary if developing thereafter [2]. Microcephaly can be an isolated sign or present as one of the associated features defining various genetic syndromes. Over 900 distinct phenotypes and about 800 genes have so far been recorded in the OMIM database [3], which implies significant clinical and genetic heterogeneity. Consequently, establishing genetic etiology is challenging; genetic pathogenesis was reported in about 29.0% of cases based on metabolic and classical genetic testing [4], while using next generation sequencing (NGS) improved diagnostic yield. A recent study [3], employing molecular karyotyping and exome sequencing, improved diagnostic rates to 58.0% with primary microcephaly, 27.0% with secondary microcephaly, and to 15.0% in patients with unknown onset. Moreover, whole exome sequencing in the clinical setting may identify not only mutations in genes already known to be associated with investigated phenotypes, but also discover new potential genes and mechanisms for human disorders [5,6]. In this study, we describe a new association between microcephaly accompanied with severe developmental delay and intellectual disability and a potentially new gene H3F3A involved in maintaining heterochromatin and telomeric integrity.



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