Exile Vol. XXXVII No. 1

And It Was Sunday by Julie Gruen 1-6 Like a Lady by Grace Mulvihill 7 The Final You by Eric Franzon 8 Joseph\u27s Children by Seneca Murley 9 Ain\u27t the 1950s Anymore by Ellen Stader 10-12 Bonding Women by Shannon salser 13 Ice Man (for mami 1905-1975) by Anne Mulligan 14 The Car Salesman by Tom Ream 15 Cancelling the Bunny by Stewart Engesser 16-17 Richard Brautigan\u27s Body by Michael Payne 18-19 Dinner in Barcelona by Holly Kurtz 20 Untitled by Margaret Strachen 21 Candles by Eric Franzon 22 Summer Rules by Jim Cox 23-31 My Boat by Holly Kurtz 32 Untitled by Michael Payne 33 Half the Birds in the City by Tiffany Richardson 34-35 Down Queen Anne Hill by Julie Gruen 36-37 Your Music by Tim Emrick 38 Zephyrs by Steve Corinth 39-41 Mother by Anne Mulligan 42 As I Look to the Sky, Maize by Shannon Salser 43-45 Close Book before Striking by Sarah Verdon 46-47 Smoked by Tom Ream 48 Driving through Rain by Stewart Engesser 49-50 Contributors 51 Editorial decision is shared equally among the Editorial Board. -i 35th Yea

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

We describe a proband evaluated through the Undiagnosed Diseases Network (UDN) who presented with microcephaly, developmental delay, and refractory epilepsy with a de novo p.Ala47Thr missense variant in the protein phosphatase gene, PPP5C. This gene has not previously been associated with a Mendelian disease, and based on the population database, gnomAD, the gene has a low tolerance for loss-of-function variants (pLI = 1, o/e = 0.07). We functionally evaluated the PPP5C variant in C. elegans by knocking the variant into the orthologous gene, pph-5, at the corresponding residue, Ala48Thr. We employed assays in three different biological processes where pph-5 was known to function through opposing the activity of genes, mec-15 and sep-1. We demonstrated that, in contrast to control animals, the pph-5 Ala48Thr variant suppresses the neurite growth phenotype and the GABA signaling defects of mec-15 mutants, and the embryonic lethality of sep-1 mutants. The Ala48Thr variant did not display dominance and behaved similarly to the reference pph-5 null, indicating that the variant is likely a strong hypomorph or complete loss-of-function. We conclude that pph-5 Ala48Thr is damaging in C. elegans. By extension in the proband, PPP5C p.Ala47Thr is likely damaging, the de novo dominant presentation is consistent with haplo-insufficiency, and the PPP5C variant is likely responsible for one or more of the proband\u27s phenotypes

Exile Vol. XXXV No. 1

ARTWORK Untitled by Eric Whitney (cover) Untitled by Rory Herbster 7 Little Boy by Eric Whitney 45 FICTION Through the Window Pane by Jennifer Read 4 to whom i may concern by Chris Campi 19 For Lack of Sleep by Amy Judge 26 Jonathan by Jim Cox 39 Skin Deep by Eric Whitney 51 NON-FICTION A Theopoetic by Robert Marshall 11 POETRY Clay Pot by Christopher Collette 1 Ars Poetica by Mans Agantyr 2 Bible Thumber by Chris Rynd 6 Play by Amy Judge 9 Satellites by Andrew C. Carinston 10 Music - Love? by Shammon J. Salser 15 Allusion by Rosemary Walsh 17 Self Portrait by Margaret Dawson 18 On Our Way by Lynn Pendleton 21 They called her Mitzi... by Jen Miller 22 Storms of Illusion by Kevin Merriman 23 Beauty by Andrew C. Carington 24 Thoughts of a Husband by Kent Lambert 25 The Music of the Sum by Zach Smith 31 Don\u27t Think by Mary Forsythe 32 Aspiration by Tim Emrick 33 Where We Go Together by Man Angantyr 35 Sunset by Chris Byrd 36 The Child of my Fatalism by Jennifer Peterson 37 Untitled by Kent Lambert 38 Terribly close to being... by Michael Payne 44 Anne Frank\u27s House by Mary Forsythe 47 Invitation by Kevin Merriman 48 Height Protest by Jen Miller 49 Dancer by Bradford Cover 50 Ars Poetica by Amy Judge 55 Editorial decision is shared equally among the Editorial Board members -title page NOTE: The author of the poem Satellites is listed as Andrew C. Carinston in the published table of contents. This is likely a misspelling as there are four instances of an Andrew C. Carington elsewhere in this edition, including the attribution on the page where Satellites is published. NOTE: The author of the poem Where We Go Together is listed as Man Angantyr in the published table of contents. This is likely a misspelling as there are four instances of an Mans Angantyr elsewhere in this edition, including the attribution on the pages where Where We Go Together is published. NOTE: Chris Byrd is listed as the author of the poem Sunset in the published version. However a note in the received version indicates that the author is actually Chris Rynd, whose poem Bible Thumper is also published in this issue. No Chris Byrd is listed among the contributors to this issue. NOTE: The author of the poem Music = Love? is listed as Shammon J. Salser in the published table of contents. This is likely a misspelling. Where Music = Love? appears the author is listed as Shannon J. Salser. The same is true of the contributors section. NOTE: Though the published table of contents is followed here, the poem by Zach Smith that is published on page 31 is listed as The Music of the Sun on page 31