Phenotypic evolution of UNC80 loss of function

American Journal of Medical Genetics, Part A

Volumn 170, Issue 12, 2016, Pages 3106-3114

  Valkanas, Elise ^a   Schaffer, Katherine ^a   Dunham, Christopher ^b   Maduro, Valerie ^a   du Souich, Christèle ^b,c   Rupps, Rosemarie ^b,c   Adams, David R ^a   Baradaran Heravi, Alireza ^b,c   Flynn, Elise ^a   Malicdan, May C ^a   Gahl, William A ^a,d   Toro, Camilo ^a   Boerkoel, Cornelius F ^a,b,c  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

emaciation; failure to thrive; growth restriction; intellectual disability; seizures

Indexed keywords

ANTICONVULSIVE AGENT; GENOMIC DNA; MESSENGER RNA; CARRIER PROTEIN; MEMBRANE PROTEIN; UNC80 PROTEIN, HUMAN;

APGAR SCORE; ARTICLE; BIRTH WEIGHT; CASE REPORT; CONVERGENT STRABISMUS; COPY NUMBER VARIATION; CRANIOFACIAL MALFORMATION; DYSPNEA; ENZYME DEFICIENCY; EXOME; FAILURE TO THRIVE; FEMALE; FOCAL EPILEPSY; GASTROESOPHAGEAL REFLUX; GASTROINTESTINAL DISEASE; GASTROINTESTINAL MALFORMATION; GASTROINTESTINAL OBSTRUCTION; GENE; GENE FUNCTION; GENE MUTATION; GENETIC DISORDER; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HUMAN; IMMUNE DEFICIENCY; INFLAMMATORY BOWEL DISEASE; INTELLECTUAL IMPAIRMENT; LIVER DISEASE; MALABSORPTION; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITIONAL INTOLERANCE; PARASITOSIS; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; SPASTIC PARAPLEGIA; STARVATION; UNC80 GENE; WEIGHT GAIN; CHILD; COMPLICATION; DEVELOPMENTAL DISORDER; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; PARAPLEGIA; PATHOPHYSIOLOGY; PRESCHOOL CHILD; RNA STABILITY; SIBLING;

CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EXOME; FAILURE TO THRIVE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MEMBRANE PROTEINS; PARAPLEGIA; RNA STABILITY; SIBLINGS;

EID: 84981532033     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37929     Document Type: Article

References (29)

1. Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, Al-Dosary M, Qari A, Al-Sheddi T, Al-Muheiza M, Al-Qubbaj W, Lakmache Y, Al-Hindi H, Ghaziuddin M, Colak D, Kaya N. 2013. Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. Am J Hum Genet 93:721–726.
2. Aldridge VK, Dovey TM, Martin CI, Meyer C. 2010. Identifying clinically relevant feeding problems and disorders. J Child Health Care 14:261–270.
3. Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, Kohler S, Lee EM, Links AE, Markello TC, Mungall CJ, Nehrebecky M, Robinson PN, Sincan M, Soldatos AG, Tifft CJ, Toro C, Trang H, Valkanas E, Vasilevsky N, Wahl C, Wolfe LA, Boerkoel CF, Brudno M, Haendel MA, Gahl WA, Smedley D. 2015. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Genet Med 18:608–617.
4. Chatoor I. 2009. Diagnosis and treatment of feeding disorders in infants, toddlers, and young children. Washington: National Center for Clinical Infant Programs.
5. Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA, University of Washington Center for Mendelian G, Bamshad MJ. 2015. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet 96:462–473.
6. Cochet-Bissuel M, Lory P, Monteil A. 2014. The sodium leak channel, NALCN, in health and disease. Front Cell Neurosci 8:132.
7. Gahagan S. 2006. Failure to thrive: A consequence of undernutrition. Pediatr Rev 27:e1–11.
8. Humphrey JA, Hamming KS, Thacker CM, Scott RL, Sedensky MM, Snutch TP, Morgan PG, Nash HA. 2007. A putative cation channel and its novel regulator: Cross-species conservation of effects on general anesthesia. Curr Biol 17:624–629.
9. Jaffe AC. 2011. Failure to thrive: Current clinical concepts. Pediatr Rev 32:100–107; quiz 108.
10. Jospin M, Watanabe S, Joshi D, Young S, Hamming K, Thacker C, Snutch TP, Jorgensen EM, Schuske K. 2007. UNC-80 and the NCA ion channels contribute to endocytosis defects in synaptojanin mutants. Curr Biol 17:1595–1600.
11. Kohler S, Bauer S, Horn D, Robinson PN. 2008. Walking the interactome for prioritization of candidate disease genes. Am J Hum Genet 82:949–958.
12. Koroglu C, Seven M, Tolun A. 2013. Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. J Med Genet 50:515–520.
13. Lear BC, Darrah EJ, Aldrich BT, Gebre S, Scott RL, Nash HA, Allada R. 2013. UNC79 and UNC80, putative auxiliary subunits of the NARROW ABDOMEN ion channel, are indispensable for robust circadian locomotor rhythms in Drosophila. PLoS ONE 8:e78147.
14. Lu B, Su Y, Das S, Liu J, Xia J, Ren D. 2007. The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm. Cell 129:371–383.
15. Lu B, Zhang Q, Wang H, Wang Y, Nakayama M, Ren D. 2010. Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex. Neuron 68:488–499.
16. Markello TC, Han T, Carlson-Donohoe H, Ahaghotu C, Harper U, Jones M, Chandrasekharappa S, Anikster Y, Adams DR, Program NCS, Gahl WA, Boerkoel CF. 2012. Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering. Mol Genet Metab 105:382–389.
17. Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS. 2015. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. J Med Genet 53:397–402.
18. Pierce-Shimomura JT, Chen BL, Mun JJ, Ho R, Sarkis R, McIntire SL. 2008. Genetic analysis of crawling and swimming locomotory patterns in C. elegans. Proc Natl Acad Sci USA 105:20982–20987.
19. Rybak A. 2015. Organic and nonorganic feeding disorders. Ann Nutr Metab 66:16–22.
20. Schadler G, Suss-Burghart H, Toschke AM, von Voss H, von Kries R. 2007. Feeding disorders in ex-prematures: Causes-response to therapy-long term outcome. Eur J Pediatr 166:803–808.
21. Shamseldin HE, Faqeih E, Alasmari A, Zaki MS, Gleeson JG, Alkuraya FS. 2016. Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy. Am J Hum Genet 98:210–215.
22. Smedley D, Kohler S, Czeschik JC, Amberger J, Bocchini C, Hamosh A, Veldboer J, Zemojtel T, Robinson PN. 2014. Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases. Bioinformatics 30:3215–3222.
23. Snutch TP, Monteil A. 2007. The sodium “leak” has finally been plugged. Neuron 54:505–507.
24. Speca DJ, Chihara D, Ashique AM, Bowers MS, Pierce-Shimomura JT, Lee J, Rabbee N, Speed TP, Gularte RJ, Chitwood J, Medrano JF, Liao M, Sonner JM, Eger EI 2nd, Peterson AS, McIntire SL. 2010. Conserved role of unc-79 in ethanol responses in lightweight mutant mice. PLoS Genet 6.
25. Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tetreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD, Care4Rare Canada C, Baylor-Hopkins Center for Mendelian G, Lupski JR, Ren D, Yoon G. 2016. Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability. Am J Hum Genet 98:202–209.
26. Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M. 2007. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17:1665–1674.
27. Yeh E, Ng S, Zhang M, Bouhours M, Wang Y, Wang M, Hung W, Aoyagi K, Melnik-Martinez K, Li M, Liu F, Schafer WR, Zhen M. 2008. A putative cation channel, NCA-1, and a novel protein, UNC-80, transmit neuronal activity in C. elegans. PLoS Biol 6:e55.
28. Yu FH, Yarov-Yarovoy V, Gutman GA, Catterall WA. 2005. Overview of molecular relationships in the voltage-gated ion channel superfamily. Pharmacol Rev 57:387–395.
29. Zenel JA Jr. 1997. Failure to thrive: A general pediatrician's perspective. Pediatr Rev 18:371–378.