An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

Journal of Human Genetics

Volumn 59, Issue 6, 2014, Pages 300-306

  Yamamoto, Toshiyuki ^a   Wilsdon, Anna ^b   Joss, Shelagh ^c   Isidor, Bertrand ^d,e   Erlandsson, Anna ^f   Suri, Mohnish ^b   Sangu, Noriko ^a   Shimada, Shino ^a   Shimojima, Keiko ^a   Le Caignec, Cédric ^d,e   Samuelsson, Lena ^f   Stefanova, Margarita ^f,g,h  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^c SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^d NANTES UNIVERSITY HOSPITAL   (France)

^e L INSTITUT DU THORAX   (France)

^f SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^g UNIVERSITY OF GOTHENBURG   (Sweden)

^h LINKÖPING UNIVERSITY HOSPITAL   (Sweden)

Author keywords

behavioral abnormality; brain expressed X linked 3 (BEX3); intellectual disability; interleukin 1 receptor accessory proteinlike 2 (IL1RAPL2); microdeletion Xq22; PelizaeusMerzbacher disease (PMD); proteolipid protein 1 (PLP1)

Indexed keywords

ADOLESCENT; ARTICLE; AUTOMUTILATION; BEHAVIOR DISORDER; BILATERAL HEARING LOSS; BIRTH WEIGHT; BONE AGE; BRAIN ATROPHY; BRAIN EXPRESSED X LINKED GENE; BRAIN VENTRICLE DILATATION; CESAREAN SECTION; CHILD; CHROMOSOME DELETION X; CHROMOSOME XQ; CHROMOSOME XQ22; CLINICAL ARTICLE; CONSTIPATION; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; DIARRHEA; DIVERGENT STRABISMUS; DOMINANT INHERITANCE; DYSPHAGIA; ELECTROENCEPHALOGRAPHY; EVOKED VISUAL RESPONSE; FACE MALFORMATION; FEEDING DIFFICULTY; FEMALE; FETUS DISTRESS; FETUS MOVEMENT; GASTROESOPHAGEAL REFLUX; GENE; GENOTYPE PHENOTYPE CORRELATION; HEAD CIRCUMFERENCE; HEARING IMPAIRMENT; HUMAN; HYDRAMNIOS; HYPERSOMNIA; HYPOGLYCEMIA; HYPOPLASIA; INCONTINENCE; INTELLECTUAL IMPAIRMENT; INTERLEUKIN 1 RECEPTOR PROTEIN LIKE 2 GENE; IRRITABILITY; JAW MALFORMATION; LAPAROSCOPIC SURGERY; LARGE EAR; LONG PHILTRUM; MEDICAL HISTORY; MUSCLE HYPOTONIA; NEUROIMAGING; NEUROMUSCULAR DISEASE; NEWBORN PERIOD; NOCICEPTION; NOSE FEEDING; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONLY CHILD; PATIENT INFORMATION; PES EQUINOVARUS; POOR EYE CONTACT; PREGNANCY COMPLICATION; PREMATURE LABOR; PRESCHOOL CHILD; PROTEOLIPID PROTEIN 1 GENE; SCHOOL CHILD; SCOLIOSIS; SEIZURE; SHORT STATURE; SLEEP DISORDER; SPEECH DELAY; STOMACH FUNDOPLICATION; STRABISMUS; TACHYPNEA; TELECANTHUS; UNDERWEIGHT; VISUAL IMPAIRMENT; VOMITING; WHITE MATTER LESION; BEHAVIOR; CASE REPORT; CHROMOSOME 22; COMPLICATION; GENE DELETION; GENETICS; GENOTYPE; INFANT; NUCLEOTIDE SEQUENCE; PHENOTYPE; SEX CHROMOSOME ABERRATION; X CHROMOSOME INACTIVATION;

PLP1 PROTEIN, HUMAN; PROTEOLIPID PROTEIN;

ADOLESCENT; BASE SEQUENCE; BEHAVIORAL SYMPTOMS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; GENOTYPE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MUSCLE HYPOTONIA; MYELIN PROTEOLIPID PROTEIN; PHENOTYPE; SEQUENCE DELETION; SEX CHROMOSOME ABERRATIONS; X CHROMOSOME INACTIVATION;

EID: 84903171271     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.21     Document Type: Article

References (22)

1. Yamamoto, T. & Shimojima, K. Pelizaeus-Merzbacher disease as a chromosomal disorder. Congenit. Anom. (Kyoto) 53, 3-8 (2013).
2. Inoue, K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6, 1-16 (2005). (Pubitemid 40394825)
3. Shimojima, K., Inoue, T., Hoshino, A., Kakiuchi, S., Watanabe, Y., Sasaki, M. et al. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. Brain Dev. 32, 171-179 (2010).
4. Inoue, K., Osaka, H., Thurston, V. C., Clarke, J. T., Yoneyama, A., Rosenbarker, L. et al. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am. J. Hum. Genet. 71, 838-853 (2002). (Pubitemid 135750516)
5. Torisu, H., Iwaki, A., Takeshita, K., Hiwatashi, A., Sanefuji, M., Fukumaki, Y. et al. Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion. Brain Dev. 34, 852-856 (2012).
6. Raskind, W. H., Williams, C. A., Hudson, L. D. & Bird, T. D. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am. J. Hum. Genet. 49, 1355-1360 (1991). (Pubitemid 21891781)
7. Soltanzadeh, P., Friez, M. J., Dunn, D., von Niederhausern, A., Gurvich, O. L., Swoboda, K. J. et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul. Disord. 20, 499-504 (2010).
8. Lee, J. A., Carvalho, C. M. & Lupski, J. R. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131, 1235-1247 (2007). (Pubitemid 350297419)
9. Hickey, T., Chandy, A. & Norman, R. J. The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome. J. Clin. Endocrinol. Metab. 87, 161-165 (2002). (Pubitemid 34084686)
10. Shimada, S., Okamoto, N., Ito, M., Arai, Y., Momosaki, K., Togawa, M. et al. MECP2 duplication syndrome in both genders. Brain Dev. 35, 411-419 (2013).
11. Shimojima, K., Komoike, Y., Tohyama, J., Takahashi, S., Paez, M. T., Nakagawa, E. et al. TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Genomics 94, 414-422 (2009).
12. Shimojima, K., Okanishi, T. & Yamamoto, T. Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome. Am. J. Med. Genet. A 155A, 2293-2297 (2011).
13. Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L. et al. Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Hum. Mol. Genet. 17, 3965-3974 (2008). (Pubitemid 352762857)
14. Grillo, L., Reitano, S., Belfiore, G., Spalletta, A., Amata, S., Bottitta, M. et al. Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients. Eur. J. Med. Genet. 53, 113-116 (2010).
15. Jun, L., Frints, S., Duhamel, H., Herold, A., Abad-Rodrigues, J., Dotti, C. et al. NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation. Curr. Biol. 11, 1381-1391 (2001). (Pubitemid 32863187)
16. Frints, S. G., Jun, L., Fryns, J. P., Devriendt, K., Teulingkx, R., Van den Berghe, L. et al. Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene. Am. J. Med. Genet. A 119A, 367-374 (2003). (Pubitemid 37063869)
17. Bedoyan, J. K., Schaibley, V. M., Peng, W., Bai, Y., Mondal, K., Shetty, A. C. et al. Disruption of RAB40AL function leads to Martin-Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. J. Med. Genet. 49, 332-340 (2012).
18. Garbern, J. Y. Pelizaeus-Merzbacher disease: genetic and cellular pathogenesis. Cell. Mol. Life Sci. 64, 50-65 (2007). (Pubitemid 46159445)
19. Alvarez, E., Zhou, W., Witta, S. E. & Freed, C. R. Characterization of the Bex gene family in humans, mice, and rats. Gene 357, 18-28 (2005). (Pubitemid 41267311)
20. Huang, E. J. & Reichardt, L. F. Neurotrophins: roles in neuronal development and function. Annu. Rev. Neurosci. 24, 677-736 (2001). (Pubitemid 32695243)
21. Roux, P. P. & Barker, P. A. Neurotrophin signaling through the p75 neurotrophin receptor. Prog. Neurobiol. 67, 203-233 (2002).
22. Skaper, S. D. The neurotrophin family of neurotrophic factors: an overview. Methods Mol. Biol. 846, 1-12 (2012).