X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 164-169

  Bissar Tadmouri, Nesrine ^a   Donahue, Whithey L ^b,c   Al Gazali, Lihadh ^d   Nelson, Stanley F ^e   Bayrak Toydemir, Pinar ^b,c   Kantarci, Sibel ^e,f,g  

^a BEIRUT ARAB UNIVERSITY   (Lebanon)

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

Author keywords

ALG13; Exome sequencing; Glycosylation defect; Nonsyndromic intellectual disability; X linked intellectual disability

Indexed keywords

CYSTINE; TYROSINE; ALG13 PROTEIN, HUMAN; N ACETYLGLUCOSAMINYLTRANSFERASE;

ALG13 GENE; AMINO ACID SUBSTITUTION; ARTICLE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MUTATOR GENE; NONSYNDROMIC INTELLECTUAL DISABILITY; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SEGREGATION ANALYSIS; SEQUENCE ALIGNMENT; SIBLING; X CHROMOSOME EXOME SEQUENCING; CHROMOSOME MAP; DNA SEQUENCE; EXOME; GENETICS; MUTATION; PEDIGREE; SEX DIFFERENCE; X CHROMOSOMAL INHERITANCE; X CHROMOSOME;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; EXOME; GENES, X-LINKED; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; MUTATION, MISSENSE; N-ACETYLGLUCOSAMINYLTRANSFERASES; PEDIGREE; SEQUENCE ANALYSIS, DNA; SEX FACTORS; SIBLINGS;

EID: 84890686582     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36233     Document Type: Article

References (28)

1. American Association on Mental Retardation. 2002. Mental retardation: Definition, classification, and systems of supports. 10th ed. Washington, DC: American Association on Mental Retardation. p 9.
2. American Psychiatric Association. 2000. Diagnostic and statistical manual of mental disorders, text revision. 4th ed. Washington, DC: American Psychiatric Association.
3. Averbeck N, Keppler-Ross S, Dean N. 2007. Membrane topology of the Alg14 endoplasmic reticulum UDP-GlcNAc transferase subunit. J Biol Chem 282:29081-29088.
4. Bickel T, Lehle L, Schwarz M, Aebi M, Jakob CA. 2005. Biosynthesis of lipid-linked oligosaccharides in Saccharomyces cerevisiae: Alg13p and Alg14p form a complex required for the formation of GlcNAc(2)-PP-dolichol. J Biol Chem 280:34500-34506.
5. Chantret I, Dancourt J, Barbat A, Moore SE. 2005. Two proteins homologous to the N- and C-terminal domains of the bacterial glycosyltransferase Murg are required for the second step of dolichyl linked oligosaccharide synthesis in Saccharomyces cerevisiae. J Biol Chem 280:9236-9242.
6. de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, Des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC. 2007. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 28:207-208.
7. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, Del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. 2012. Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability. N Engl J Med 367:1921-1929.
8. Gao XD, Tachikawa H, Sato T, Jigami Y, Dean N. 2005. Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation. J Biol Chem 280:36254-36262.
9. Gécz J, Shoubridge C, Corbett M. 2009. The genetic landscape of intellectual disability arising from chromosome X. Trends Genet 25:308-316.
10. Ikeuchi T, Koide R, Tanaka H, Onodera O, Igarashi S, Takahashi H, Kondo R, Ishikawa A, Tomoda A, Miike T. 1995. Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 37:769-775.
11. Kaufman L, Ayub M, Vincent JB. 2010. The genetic basis of non-syndromic intellectual disability: A review. J Neurodev Disord 2:182-209.
12. Leonard H, Wen X. 2002. The epidemiology of mental retardation: Challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 8:117-134.
13. McLaren J, Bryson SE. 1987. Review of recent epidemiological studies of mental retardation: Prevalence, associated disorders, and etiology. Am J Ment Retard 92:243-254.
14. Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. 2011. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478:57-63.
15. Neri G, Chiurazzi P. 1999. X-linked mental retardation. Adv Genet 41:55-94.
16. Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, Zenker M, Hüffmeier U, Thiel C, Rüschendorf F, Nürnberg P, Reis A, Trautmann U. 2006. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 140A:2063-2074.
17. Renieri A, Pescucci C, Longo I, Ariani F, Mari F, Meloni I. 2005. Non-syndromic X-linked mental retardation: From a molecular to a clinical point of view. J Cell Physiol 204:8-20.
18. Roeleveld N, Zielhuis GA, Gabreëls F. 1997. The prevalence of mental retardation: A critical review of recent literature. Dev Med Child Neurol 39:125-132.
19. Ropers HH, Hamel BC. 2005. X-linked mental retardation. Nat Rev Genet 6:46-57.
20. Ropers HH. 2006. X-linked mental retardation: Many genes for a complex disorder. Curr Opin Genet Dev 16:260-269.
21. Ropers HH. 2008. Genetics of intellectual disability. Curr Opin Genet Dev 18:241-250.
22. Singleton AB. 2011. Exome sequencing: A transformative technology. Lancet Neurol 10:942-946.
23. Sparks SE, Krasnewich DM. 1993. Congenital disorders of glycosylation overview. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle [updated 2012 Aug. 09].
24. Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR. 2009. A systematic, large-scale resequencing screen of X chromosome coding exons in mental retardation. Nat Genet 41:535-543.
25. Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ. 2012. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 21:4151-4161.
26. Turner G, Turner B. 1974. X-linked mental retardation. J Med Genet 11:109-113.
27. Wang X, Weldeghiorghis T, Zhang G, Imperiali B, Prestegard JH. 2008. Solution structure of Alg13: The sugar donor subunit of a yeast N-acetylglucosamine transferase. Structure 16:965-975.
28. Zahir F, Friedman JM. 2007. The impact of array genomic hybridization on mental retardation research: A review of current technologies and their clinical utility. Clin Genet 72:271-287.