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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2011

Open Access 01-12-2011 | Case Report

9q22 Deletion - First Familial Case

Authors: Linda Siggberg, Maarit Peippo, Marjatta Sipponen, Taina Miikkulainen, Keiko Shimojima, Toshiyuki Yamamoto, Jaakko Ignatius, Sakari Knuutila

Published in: Orphanet Journal of Rare Diseases | Issue 1/2011

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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.
Appendix
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Metadata
Title
9q22 Deletion - First Familial Case
Authors
Linda Siggberg
Maarit Peippo
Marjatta Sipponen
Taina Miikkulainen
Keiko Shimojima
Toshiyuki Yamamoto
Jaakko Ignatius
Sakari Knuutila
Publication date
01-12-2011
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2011
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/1750-1172-6-45

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