Abstract
Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed in Turner patients.We present a unique case of mosaic Turner syndrome with a complex rearrangement consisting of a partial deletion of chromosome 2q and duplication of chromosome 10p {[46],XX,der(2)t(2;10)(2pter. →. 2q37::10p13. →. 10pter)[127]/45,X,der(2)t(2;10)(2pter. →. 2q37::10p13. →. 10pter)[23]}. The patient is affected by partial empty sella, in association with a group of multiorgan autoimmunity-related manifestations including Hashimoto's thyroiditis, celiac disease, insulin-dependent diabetes mellitus (Type 1 diabetes, T1D), possible autoimmune inner ear disease with sensorineural deficit, preclinical Addison disease and alopecia universalis. The patient was previously described at the age of 2.4. years and now re-evaluated at the age of 14. years after she developed autoimmune conditions. AIRE gene screening revealed heterozygous c.834 C>G polymorphism (p.Ser278Arg) and IVS9+6G>A variation, thus likely excluding autoimmune polyendocrine syndrome Type 1 (APECED). Heterozygous R620W polymorphism of the protein tyrosine phosphatase non receptor type 22 (. PTPN22) gene was detected in patient's DNA. SNP-array analysis revealed that autoimmunity-related genes could be affected by the partial monosomy 2q and trisomy 10p.These data suggest that early genetic analysis in TS patients with complex associations of multiorgan autoimmune manifestations would permit a precise diagnostic classification and also be an indicator for undiscovered pathogenetic mechanisms.
| Original language | English |
|---|---|
| Pages (from-to) | 439-443 |
| Number of pages | 5 |
| Journal | Gene |
| Volume | 515 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Feb 25 2013 |
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Keywords
- AIRE polymorphism
- Autoantibodies
- Autoimmune polyglandular syndrome
- PTPN22 polymorphism
- SNP-array analysis
- X chromosome condition
ASJC Scopus subject areas
- Genetics
Cite this
Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p. / Grossi, Armando; Palma, Alessia; Zanni, Ginevra; Novelli, Antonio; Loddo, Sara; Cappa, Marco; Fierabracci, Alessandra.
In: Gene, Vol. 515, No. 2, 25.02.2013, p. 439-443.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p
AU - Grossi, Armando
AU - Palma, Alessia
AU - Zanni, Ginevra
AU - Novelli, Antonio
AU - Loddo, Sara
AU - Cappa, Marco
AU - Fierabracci, Alessandra
PY - 2013/2/25
Y1 - 2013/2/25
N2 - Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed in Turner patients.We present a unique case of mosaic Turner syndrome with a complex rearrangement consisting of a partial deletion of chromosome 2q and duplication of chromosome 10p {[46],XX,der(2)t(2;10)(2pter. →. 2q37::10p13. →. 10pter)[127]/45,X,der(2)t(2;10)(2pter. →. 2q37::10p13. →. 10pter)[23]}. The patient is affected by partial empty sella, in association with a group of multiorgan autoimmunity-related manifestations including Hashimoto's thyroiditis, celiac disease, insulin-dependent diabetes mellitus (Type 1 diabetes, T1D), possible autoimmune inner ear disease with sensorineural deficit, preclinical Addison disease and alopecia universalis. The patient was previously described at the age of 2.4. years and now re-evaluated at the age of 14. years after she developed autoimmune conditions. AIRE gene screening revealed heterozygous c.834 C>G polymorphism (p.Ser278Arg) and IVS9+6G>A variation, thus likely excluding autoimmune polyendocrine syndrome Type 1 (APECED). Heterozygous R620W polymorphism of the protein tyrosine phosphatase non receptor type 22 (. PTPN22) gene was detected in patient's DNA. SNP-array analysis revealed that autoimmunity-related genes could be affected by the partial monosomy 2q and trisomy 10p.These data suggest that early genetic analysis in TS patients with complex associations of multiorgan autoimmune manifestations would permit a precise diagnostic classification and also be an indicator for undiscovered pathogenetic mechanisms.
AB - Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed in Turner patients.We present a unique case of mosaic Turner syndrome with a complex rearrangement consisting of a partial deletion of chromosome 2q and duplication of chromosome 10p {[46],XX,der(2)t(2;10)(2pter. →. 2q37::10p13. →. 10pter)[127]/45,X,der(2)t(2;10)(2pter. →. 2q37::10p13. →. 10pter)[23]}. The patient is affected by partial empty sella, in association with a group of multiorgan autoimmunity-related manifestations including Hashimoto's thyroiditis, celiac disease, insulin-dependent diabetes mellitus (Type 1 diabetes, T1D), possible autoimmune inner ear disease with sensorineural deficit, preclinical Addison disease and alopecia universalis. The patient was previously described at the age of 2.4. years and now re-evaluated at the age of 14. years after she developed autoimmune conditions. AIRE gene screening revealed heterozygous c.834 C>G polymorphism (p.Ser278Arg) and IVS9+6G>A variation, thus likely excluding autoimmune polyendocrine syndrome Type 1 (APECED). Heterozygous R620W polymorphism of the protein tyrosine phosphatase non receptor type 22 (. PTPN22) gene was detected in patient's DNA. SNP-array analysis revealed that autoimmunity-related genes could be affected by the partial monosomy 2q and trisomy 10p.These data suggest that early genetic analysis in TS patients with complex associations of multiorgan autoimmune manifestations would permit a precise diagnostic classification and also be an indicator for undiscovered pathogenetic mechanisms.
KW - AIRE polymorphism
KW - Autoantibodies
KW - Autoimmune polyglandular syndrome
KW - PTPN22 polymorphism
KW - SNP-array analysis
KW - X chromosome condition
UR - http://www.scopus.com/inward/record.url?scp=84872490306&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84872490306&partnerID=8YFLogxK
U2 - 10.1016/j.gene.2012.12.007
DO - 10.1016/j.gene.2012.12.007
M3 - Article
C2 - 23262341
AN - SCOPUS:84872490306
VL - 515
SP - 439
EP - 443
JO - Gene
JF - Gene
SN - 0378-1119
IS - 2
ER -