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Identification of 2.3-Mb gene locus for congenital aural atresia in 18q22.3 deletion: a case report analyzed by comparative genomic hybridization.
Otol Neurotol 2006; 27(3):427-32ON

Abstract

OBJECTIVE

18q deletion syndrome is a multiple-anomaly mental retardation syndrome associated with congenital aural atresia. The purpose of this study was to determine the frequency of the congenital aural atresia phenotype in 18q deletion syndrome patients and to delineate a potential critical region for congenital aural atresia at the 18q22.3-18q23 region.

STUDY DESIGN AND PATIENTS

The study describes one 18q deletion syndrome clinical report (Patient 15) with an overview of 19 other selected 18q deletion syndrome patients presenting congenital aural atresia from 18 published articles and one presented poster on 18q deletion syndrome.

RESULTS

Our investigation, together with the results of published 18q deletion syndrome reports, shows that the average frequency of congenital aural atresia is approximately 52%. A combination of three 18q deletion syndrome probands defines a chromosomal deletion site for congenital aural atresia at 18q22.3-18q23 in the region between markers D18S489 and D18S554. These polymorphic markers outline a putative critical interval of approximately 2.3 Mb, including the genes ZNF407, ZADH2, SDCCAG33, ZNF516, FLJ44881, ZNF236, MBP-Golli, and GALR1. The haploinsufficiency of these genes is suggested to be a primary cause of congenital aural atresia phenotype in 18q deletion syndrome individuals.

CONCLUSION

Congenital aural atresia is a relevant diagnostic clue and a major recognizable feature of 18q deletion syndrome. Early diagnosis of 18q deletion syndrome may enable application of hearing aids. Knockout studies on the congenital aural atresia mouse gene homolog may add further insight into the genes responsible for this condition.

Authors+Show Affiliations

Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas, USA, and Department of Medical Genetics, University Hospital Brno, Faculty of Science, Masaryk University, Brno, Czech Republic. ales.dostal@eudoramail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

16639285

Citation

Dostal, Ales, et al. "Identification of 2.3-Mb Gene Locus for Congenital Aural Atresia in 18q22.3 Deletion: a Case Report Analyzed By Comparative Genomic Hybridization." Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, vol. 27, no. 3, 2006, pp. 427-32.
Dostal A, Nemeckova J, Gaillyova R, et al. Identification of 2.3-Mb gene locus for congenital aural atresia in 18q22.3 deletion: a case report analyzed by comparative genomic hybridization. Otol Neurotol. 2006;27(3):427-32.
Dostal, A., Nemeckova, J., Gaillyova, R., Vranova, V., Zezulkova, D., Lejska, M., ... Kuglik, P. (2006). Identification of 2.3-Mb gene locus for congenital aural atresia in 18q22.3 deletion: a case report analyzed by comparative genomic hybridization. Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 27(3), pp. 427-32.
Dostal A, et al. Identification of 2.3-Mb Gene Locus for Congenital Aural Atresia in 18q22.3 Deletion: a Case Report Analyzed By Comparative Genomic Hybridization. Otol Neurotol. 2006;27(3):427-32. PubMed PMID: 16639285.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of 2.3-Mb gene locus for congenital aural atresia in 18q22.3 deletion: a case report analyzed by comparative genomic hybridization. AU - Dostal,Ales, AU - Nemeckova,Jitka, AU - Gaillyova,Renata, AU - Vranova,Vladimira, AU - Zezulkova,Dita, AU - Lejska,Mojmir, AU - Slapak,Ivo, AU - Dostalova,Zuzana, AU - Kuglik,Petr, PY - 2006/4/28/pubmed PY - 2007/6/29/medline PY - 2006/4/28/entrez SP - 427 EP - 32 JF - Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology JO - Otol. Neurotol. VL - 27 IS - 3 N2 - OBJECTIVE: 18q deletion syndrome is a multiple-anomaly mental retardation syndrome associated with congenital aural atresia. The purpose of this study was to determine the frequency of the congenital aural atresia phenotype in 18q deletion syndrome patients and to delineate a potential critical region for congenital aural atresia at the 18q22.3-18q23 region. STUDY DESIGN AND PATIENTS: The study describes one 18q deletion syndrome clinical report (Patient 15) with an overview of 19 other selected 18q deletion syndrome patients presenting congenital aural atresia from 18 published articles and one presented poster on 18q deletion syndrome. RESULTS: Our investigation, together with the results of published 18q deletion syndrome reports, shows that the average frequency of congenital aural atresia is approximately 52%. A combination of three 18q deletion syndrome probands defines a chromosomal deletion site for congenital aural atresia at 18q22.3-18q23 in the region between markers D18S489 and D18S554. These polymorphic markers outline a putative critical interval of approximately 2.3 Mb, including the genes ZNF407, ZADH2, SDCCAG33, ZNF516, FLJ44881, ZNF236, MBP-Golli, and GALR1. The haploinsufficiency of these genes is suggested to be a primary cause of congenital aural atresia phenotype in 18q deletion syndrome individuals. CONCLUSION: Congenital aural atresia is a relevant diagnostic clue and a major recognizable feature of 18q deletion syndrome. Early diagnosis of 18q deletion syndrome may enable application of hearing aids. Knockout studies on the congenital aural atresia mouse gene homolog may add further insight into the genes responsible for this condition. SN - 1531-7129 UR - https://www.unboundmedicine.com/medline/citation/16639285/Identification_of_2_3_Mb_gene_locus_for_congenital_aural_atresia_in_18q22_3_deletion:_a_case_report_analyzed_by_comparative_genomic_hybridization_ L2 - http://dx.doi.org/10.1097/00129492-200604000-00022 DB - PRIME DP - Unbound Medicine ER -