Xp22.3 interstitial deletion: A recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation

Gene

Volumn 527, Issue 2, 2013, Pages 578-583

  Ben Khelifa, Hela ^a,b   Soyah, Najla ^a   Ben Abdallah Bouhjar, Inesse ^a,b   Gritly, Ryma ^c   Sanlaville, Damien ^d   Elghezal, Hatem ^a,b   Saad, Ali ^a,b   Mougou Zerelli, Soumaya ^a,b  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b UNIVERSITY OF SOUSSE   (Tunisia)

^c Units for Research in Rehabilitation   (Tunisia)

^d HOSPICES CIVILS DE LYON   (France)

Author keywords

Genomic rearrangements; STS deficiency; Whole genome analysis

Indexed keywords

STEROID SULFATASE ENZYME; STERYL SULFATASE; UNCLASSIFIED DRUG; VALPROIC ACID;

ADOLESCENT; ARTICLE; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME XP; COMPARATIVE GENOMIC HYBRIDIZATION; CONVULSION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HEAD CIRCUMFERENCE; HUMAN; INTELLIGENCE QUOTIENT; INTERSTITIAL CHROMOSOME DELETION; INTRAUTERINE GROWTH RETARDATION; LANGUAGE DELAY; MALE; MEDICAL HISTORY; METAPHASE CHROMOSOME; MYOCLONUS SEIZURE; PERIPHERAL LYMPHOCYTE; PHILTRUM; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETROGNATHIA; X LINKED ICHTHYOSIS; X LINKED MENTAL RETARDATION;

4,6 DIAMINO-2-PHENYLINDOLE; ADHD; ATTENTION DEFICIT-HYPERACTIVITY DISORDER; CGH ARRAY; CNV; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DAPI; FISH; FLUORESCENCE IN SITU HYBRIDIZATION; FMR1; FRAGILE X MENTAL RETARDATION 1; GENOMIC REARRANGEMENTS; HALOACID DEHALOGENASE-LIKE HYDROLASE DOMAIN-CONTAINING 1; HDHD1A; KAL1; KALLMANN SYNDROME 1; MB; MEGABASE; MENTAL RETARDATION; MR; NAHR; ND; NEUROLIGIN 4, X-LINKED; NLGN4X; NONALLELIC HOMOLOGOUS RECOMBINATION; NOT DETERMINED; PATATIN-LIKE PHOSPHOLIPASE DOMAIN CONTAINING 4; PNPLA4; SHORT STATURE HOMEOBOX; SHOX; STEROID SULFATASE ENZYME; STS; STS DEFICIENCY; VARIABLE CHARGE, X-LINKED; VARIABLE CHARGE, X-LINKED 2; VARIABLE CHARGE, X-LINKED 3A; VARIABLE CHARGE, X-LINKED 3B; VCX; VCX2; VCX3A; VCX3B; WHOLE GENOME ANALYSIS; X-LINKED ICHTHYOSIS; X-LINKED MENTAL RETARDATION; XLI; XLMR;

ADOLESCENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; ICHTHYOSIS, X-LINKED; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION, X-LINKED; NUCLEAR PROTEINS; PEDIGREE; STERYL-SULFATASE;

EID: 84881544736     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.06.018     Document Type: Article

References (27)

1. Ballabio A., et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc. Natl. Acad. Sci. 1989, 86:10001-10005.
2. Boycott K.M., Parslow M.I., Ross J.L., Miller I.P., Bech-Hansen N.T., MacLeod P.M. A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD. Am. J. Med. Genet. A. 2003, 2:139-147.
3. Cuevas-Covarrubias S.A., Gonzalez-Huerta L.M. Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis. Br. J. Dermatol. 2008, 158:483-486.
4. De Vries B.B.A., et al. Clinical studies on submicroscopic, subtelomeric rearrangements: some clinical guidelines. J. Med. Genet. 2001, 38:145-150.
5. Doherty M.J., et al. An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. Epilepsia 2003, 12:1529-1535.
6. Esch V.H., et al. Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum. Mol. Genet. 2005, 14:1795-1803.
7. Fukami M., et al. A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am. J. Hum. Genet. 2000, 67:563-573.
8. Gohlke B.C., Haug K., Fukami M., Friedl W., Noeker M., Rappold G.A. Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. J. Med. Genet. 2000, 37:600-602.
9. Hosomi N., Oiso N., Fukai K., Hanada K., Fujita H., Ishii M. Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation. J. Dermatol. Sci. 2007, 45:31-36.
10. Kent L., et al. X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. J. Med. Genet. 2008, 45:519-524.
11. Lahn B.T., Page D.C. A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins. Hum. Mol. Genet. 2000, 9:311-319.
12. Laumonnier F., et al. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am. J. Hum. Genet. 2004, 74:552-557.
13. Lee C., Iafrate A.J., Brothman A.R. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat. Genet. 2007, 39:48-54.
14. Li F., et al. Interstitial microduplication of Xp22.31: causative of intellectual disability or benign copy number variant?. Eur. J. Med. Genet. 2010, 53:93-99.
15. Lonardo F., et al. Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. Eur. J. Med. Genet. 2007, 4:301-308.
16. Macarov M., et al. Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect. J. Intellect. Disabil. Res. 2007, 51:329-333.
17. Mencarelli M.A., et al. Private inherited microdeletion/microduplications: implications in clinical practice. Eur. J. Med. Genet. 2008, 5:409-416.
18. Mochel F., Missirian C., Reynaud R., Moncla A. Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes. Eur. J. Med. Genet. 2008, 51:68-73.
19. Newman R.S., Affara N.A., Yates J.R., Mitchell M., Ferguson-Smith M.A. Physical mapping of deletion breakpoints in patients with X-linked ichthyosis: evidence for clustering of distal and proximal breakpoints. Proc. Biol Sci. 1990, 242:231-239.
20. Ropers H.H., Hamel B.C. X-linked mental retardation. Nat. Rev. 2005, 6:46-57.
21. Sasaki M., Lange J., Keeney S. Genome destabilization by homologous recombination in the germ line. Nat. Rev. Mol. Cell Biol. 2010, 3:182-195.
22. Shapiro L.J., Weiss R., Webster D., France J.T. X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet 1978, 14:70-72.
23. Skuse D.H. X-linked genes and mental functioning. Hum. Mol. Genet. 2005, 14:R27-R32.
24. Torres-Juan L., Rosell J., Sánchez-de-la-Torre M., Fibla J., Heine-Suñer D. Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications. BMC. Med. Genet 2007, 2:8-14.
25. Vissers L.E., et al. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am. J. Hum. Genet. 2003, 73:1261-1270.
26. Weisfeld-Adams J.D., Edelmann L., Gadi I.K., Mehta L. Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1. Eur. J. Med. Genet 2012, 12:732-736.
27. Yen P.H., Li X.M., Tsai S.P., Johnson C., Mohandas T., Shapiro L.J. Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell 1990, 6:603-610.