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9q22 Deletion - First Familial Case
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 me...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135502/ https://www.ncbi.nlm.nih.gov/pubmed/21693067 http://dx.doi.org/10.1186/1750-1172-6-45 |
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author | Siggberg, Linda Peippo, Maarit Sipponen, Marjatta Miikkulainen, Taina Shimojima, Keiko Yamamoto, Toshiyuki Ignatius, Jaakko Knuutila, Sakari |
author_facet | Siggberg, Linda Peippo, Maarit Sipponen, Marjatta Miikkulainen, Taina Shimojima, Keiko Yamamoto, Toshiyuki Ignatius, Jaakko Knuutila, Sakari |
author_sort | Siggberg, Linda |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3135502 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-31355022011-07-14 9q22 Deletion - First Familial Case Siggberg, Linda Peippo, Maarit Sipponen, Marjatta Miikkulainen, Taina Shimojima, Keiko Yamamoto, Toshiyuki Ignatius, Jaakko Knuutila, Sakari Orphanet J Rare Dis Case Report 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. BioMed Central 2011-06-22 /pmc/articles/PMC3135502/ /pubmed/21693067 http://dx.doi.org/10.1186/1750-1172-6-45 Text en Copyright ©2011 Siggberg et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Siggberg, Linda Peippo, Maarit Sipponen, Marjatta Miikkulainen, Taina Shimojima, Keiko Yamamoto, Toshiyuki Ignatius, Jaakko Knuutila, Sakari 9q22 Deletion - First Familial Case |
title | 9q22 Deletion - First Familial Case |
title_full | 9q22 Deletion - First Familial Case |
title_fullStr | 9q22 Deletion - First Familial Case |
title_full_unstemmed | 9q22 Deletion - First Familial Case |
title_short | 9q22 Deletion - First Familial Case |
title_sort | 9q22 deletion - first familial case |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135502/ https://www.ncbi.nlm.nih.gov/pubmed/21693067 http://dx.doi.org/10.1186/1750-1172-6-45 |
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