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Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia |
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| Authors: | Shivarajan M Amudhavalli V Paolillo Caitlin Lawson Melanie Patterson J Kussmann A J Nopper M Lypka Carol Saunders |
| Institution: | 1. Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA
University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA;2. Clinical Genetics and Genomics Laboratory, Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA;3. Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA Clinical Genetics and Genomics Laboratory, Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA;4. University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA Division of Dermatology, Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri, USA;5. University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA |
| Abstract: | Variants in genes encoding core components of the spliceosomes are associated with craniofacial syndromes, collectively called craniofacial spliceosomopathies. SNRPE encodes a core component of pre-mRNA processing U-rich small nuclear ribonuclear proteins (UsnRNPs). Heterozygous variants in SNRPE have been reported in six families with isolated hypotrichosis simplex in addition to one case of isolated non syndromic congenital microcephaly. Here, we report a patient with a novel blended phenotype of microcephaly and congenital atrichia with multiple congenital anomalies due to a de novo intronic SNRPE deletion, c.82-28_82-16del, which results in exon skipping. As discussed within, this phenotype, which we propose be named SNRPE-related syndromic microcephaly and hypotrichosis, overlaps other craniofacial splicesosomopathies. |
| Keywords: | atrichia microcephaly multiple congenital anomalies SNRPE spliceosomes spliceosomopathy |