Tags

Type your tag names separated by a space and hit enter

9q22 Deletion--first familial case.
Orphanet J Rare Dis 2011; 6:45OJ

Abstract

BACKGROUND

Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400) due to haploinsufficiency of the PTCH1 gene (MIM *601309).

METHODS AND RESULTS

We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 Mb microdeletion at 9q22.2q22.32, detected by array CGH (244 K). The deletion does not involve the PTCH1 gene, but instead 30 other gene,s including the ROR2 gene (MIM *602337) which causing both brachydactyly type 1 (MIM #113000) and Robinow syndrome (MIM #268310), and the immunologically active SYK gene (MIM *600085). The deletion in the father was de novo and FISH analysis of blood lymphocytes did not suggest mosaicism. All three patients share similar mild dysmorphic features with downslanting palpebral fissures, narrow, high bridged nose with small nares, long, deeply grooved philtrum, ears with broad helix and uplifted lobuli, and small toenails. All have significant dysarthria and suffer from continuous middle ear and upper respiratory infections. The father also has a funnel chest and unilateral hypoplastic kidney but the daughters have no malformations.

CONCLUSIONS

This is the first report of a familial constitutional 9q22 deletion and the first deletion studied by array-CGH which does not involve the PTCH1 gene. The phenotype and penetrance are variable and the deletion found in the cognitively normal normal father poses a challenge in genetic counseling.

Authors+Show Affiliations

Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Haartmaninkatu 3, 00014 Helsinki, Finland. linda.siggberg@helsinki.fiNo 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

Language

eng

PubMed ID

21693067

Citation

Siggberg, Linda, et al. "9q22 Deletion--first Familial Case." Orphanet Journal of Rare Diseases, vol. 6, 2011, p. 45.
Siggberg L, Peippo M, Sipponen M, et al. 9q22 Deletion--first familial case. Orphanet J Rare Dis. 2011;6:45.
Siggberg, L., Peippo, M., Sipponen, M., Miikkulainen, T., Shimojima, K., Yamamoto, T., ... Knuutila, S. (2011). 9q22 Deletion--first familial case. Orphanet Journal of Rare Diseases, 6, p. 45. doi:10.1186/1750-1172-6-45.
Siggberg L, et al. 9q22 Deletion--first Familial Case. Orphanet J Rare Dis. 2011 Jun 22;6:45. PubMed PMID: 21693067.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 9q22 Deletion--first familial case. AU - Siggberg,Linda, AU - Peippo,Maarit, AU - Sipponen,Marjatta, AU - Miikkulainen,Taina, AU - Shimojima,Keiko, AU - Yamamoto,Toshiyuki, AU - Ignatius,Jaakko, AU - Knuutila,Sakari, Y1 - 2011/06/22/ PY - 2010/12/16/received PY - 2011/06/22/accepted PY - 2011/6/23/entrez PY - 2011/6/23/pubmed PY - 2011/12/13/medline SP - 45 EP - 45 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 6 N2 - BACKGROUND: Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400) due to haploinsufficiency of the PTCH1 gene (MIM *601309). METHODS AND RESULTS: We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 Mb microdeletion at 9q22.2q22.32, detected by array CGH (244 K). The deletion does not involve the PTCH1 gene, but instead 30 other gene,s including the ROR2 gene (MIM *602337) which causing both brachydactyly type 1 (MIM #113000) and Robinow syndrome (MIM #268310), and the immunologically active SYK gene (MIM *600085). The deletion in the father was de novo and FISH analysis of blood lymphocytes did not suggest mosaicism. All three patients share similar mild dysmorphic features with downslanting palpebral fissures, narrow, high bridged nose with small nares, long, deeply grooved philtrum, ears with broad helix and uplifted lobuli, and small toenails. All have significant dysarthria and suffer from continuous middle ear and upper respiratory infections. The father also has a funnel chest and unilateral hypoplastic kidney but the daughters have no malformations. CONCLUSIONS: This is the first report of a familial constitutional 9q22 deletion and the first deletion studied by array-CGH which does not involve the PTCH1 gene. The phenotype and penetrance are variable and the deletion found in the cognitively normal normal father poses a challenge in genetic counseling. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/21693067/9q22_Deletion__first_familial_case_ L2 - https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-45 DB - PRIME DP - Unbound Medicine ER -