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Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians
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| Zeitschriftentitel: | Clinical Genetics |
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| Personen und Körperschaften: | , , , , , , , , , , , |
| In: | Clinical Genetics, 76, 2009, 5, S. 441-448 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Zaidi, G Sahu, RP Zhang, L George, G Bhavani, N Shah, N Bhatia, V Bhansali, A Jevalikar, G Jayakumar, RV Eisenbarth, GS Bhatia, E Zaidi, G Sahu, RP Zhang, L George, G Bhavani, N Shah, N Bhatia, V Bhansali, A Jevalikar, G Jayakumar, RV Eisenbarth, GS Bhatia, E |
|---|---|
| author |
Zaidi, G Sahu, RP Zhang, L George, G Bhavani, N Shah, N Bhatia, V Bhansali, A Jevalikar, G Jayakumar, RV Eisenbarth, GS Bhatia, E |
| spellingShingle |
Zaidi, G Sahu, RP Zhang, L George, G Bhavani, N Shah, N Bhatia, V Bhansali, A Jevalikar, G Jayakumar, RV Eisenbarth, GS Bhatia, E Clinical Genetics Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians Genetics (clinical) Genetics |
| author_sort |
zaidi, g |
| spelling |
Zaidi, G Sahu, RP Zhang, L George, G Bhavani, N Shah, N Bhatia, V Bhansali, A Jevalikar, G Jayakumar, RV Eisenbarth, GS Bhatia, E 0009-9163 1399-0004 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1111/j.1399-0004.2009.01280.x <jats:p>Autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) is a rare recessive disorder resulting from mutations in the autoimmune regulator (<jats:italic>AIRE</jats:italic>) gene. There is no information on <jats:italic>AIRE</jats:italic> mutations in Indians. In a cross‐sectional study, nine patients (eight families), from four referral hospitals in India, were studied for <jats:italic>AIRE</jats:italic> mutations by direct sequencing. We screened for new mutations in 150 controls by allele‐specific PCR. The patients had 1–7 known components of APECED. Three patients had unusual manifestations: presentation with type 1 diabetes; chronic sinusitis and otitis media; and facial dysmorphism. All patients carried homozygous, probably recessive, <jats:italic>AIRE</jats:italic> mutations. Two unrelated patients from a small in‐bred community (Vanika Vaisya) in south India carried an unreported missense mutation, p.V80G, in the N‐terminal caspase recruitment domain. Another unique mutation, p.C302X, resulting in a truncated protein with deletion of both zinc‐finger domains, was detected in a patient from Gujarat. Neither mutation was detected in controls. Other mutations, previously described in Caucasians, were: 13 base pair deletion (p.C322fsX372) in 4 (38%), and Finn‐major (p.R257X) and p.R139X (Sardinian) mutation in one subject each. In conclusion, in this first series of APECED in Indians, we detected <jats:italic>AIRE</jats:italic> mutations previously reported in Caucasians, as well as unique mutations. Of these, p.V80G is possibly an ancestral mutation in an in‐bred community.</jats:p> Two novel <i>AIRE</i> mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians Clinical Genetics |
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| title |
Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians |
| title_unstemmed |
Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians |
| title_full |
Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians |
| title_fullStr |
Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians |
| title_full_unstemmed |
Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians |
| title_short |
Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians |
| title_sort |
two novel <i>aire</i> mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (apeced) among indians |
| topic |
Genetics (clinical) Genetics |
| url |
http://dx.doi.org/10.1111/j.1399-0004.2009.01280.x |
| publishDate |
2009 |
| physical |
441-448 |
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<jats:p>Autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) is a rare recessive disorder resulting from mutations in the autoimmune regulator (<jats:italic>AIRE</jats:italic>) gene. There is no information on <jats:italic>AIRE</jats:italic> mutations in Indians. In a cross‐sectional study, nine patients (eight families), from four referral hospitals in India, were studied for <jats:italic>AIRE</jats:italic> mutations by direct sequencing. We screened for new mutations in 150 controls by allele‐specific PCR. The patients had 1–7 known components of APECED. Three patients had unusual manifestations: presentation with type 1 diabetes; chronic sinusitis and otitis media; and facial dysmorphism. All patients carried homozygous, probably recessive, <jats:italic>AIRE</jats:italic> mutations. Two unrelated patients from a small in‐bred community (Vanika Vaisya) in south India carried an unreported missense mutation, p.V80G, in the N‐terminal caspase recruitment domain. Another unique mutation, p.C302X, resulting in a truncated protein with deletion of both zinc‐finger domains, was detected in a patient from Gujarat. Neither mutation was detected in controls. Other mutations, previously described in Caucasians, were: 13 base pair deletion (p.C322fsX372) in 4 (38%), and Finn‐major (p.R257X) and p.R139X (Sardinian) mutation in one subject each. In conclusion, in this first series of APECED in Indians, we detected <jats:italic>AIRE</jats:italic> mutations previously reported in Caucasians, as well as unique mutations. Of these, p.V80G is possibly an ancestral mutation in an in‐bred community.</jats:p> |
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| author | Zaidi, G, Sahu, RP, Zhang, L, George, G, Bhavani, N, Shah, N, Bhatia, V, Bhansali, A, Jevalikar, G, Jayakumar, RV, Eisenbarth, GS, Bhatia, E |
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| description | <jats:p>Autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) is a rare recessive disorder resulting from mutations in the autoimmune regulator (<jats:italic>AIRE</jats:italic>) gene. There is no information on <jats:italic>AIRE</jats:italic> mutations in Indians. In a cross‐sectional study, nine patients (eight families), from four referral hospitals in India, were studied for <jats:italic>AIRE</jats:italic> mutations by direct sequencing. We screened for new mutations in 150 controls by allele‐specific PCR. The patients had 1–7 known components of APECED. Three patients had unusual manifestations: presentation with type 1 diabetes; chronic sinusitis and otitis media; and facial dysmorphism. All patients carried homozygous, probably recessive, <jats:italic>AIRE</jats:italic> mutations. Two unrelated patients from a small in‐bred community (Vanika Vaisya) in south India carried an unreported missense mutation, p.V80G, in the N‐terminal caspase recruitment domain. Another unique mutation, p.C302X, resulting in a truncated protein with deletion of both zinc‐finger domains, was detected in a patient from Gujarat. Neither mutation was detected in controls. Other mutations, previously described in Caucasians, were: 13 base pair deletion (p.C322fsX372) in 4 (38%), and Finn‐major (p.R257X) and p.R139X (Sardinian) mutation in one subject each. In conclusion, in this first series of APECED in Indians, we detected <jats:italic>AIRE</jats:italic> mutations previously reported in Caucasians, as well as unique mutations. Of these, p.V80G is possibly an ancestral mutation in an in‐bred community.</jats:p> |
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| institution | DE-D275, DE-Bn3, DE-Brt1, DE-D161, DE-Gla1, DE-Zi4, DE-15, DE-Pl11, DE-Rs1, DE-105, DE-14, DE-Ch1, DE-L229 |
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| spelling | Zaidi, G Sahu, RP Zhang, L George, G Bhavani, N Shah, N Bhatia, V Bhansali, A Jevalikar, G Jayakumar, RV Eisenbarth, GS Bhatia, E 0009-9163 1399-0004 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1111/j.1399-0004.2009.01280.x <jats:p>Autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) is a rare recessive disorder resulting from mutations in the autoimmune regulator (<jats:italic>AIRE</jats:italic>) gene. There is no information on <jats:italic>AIRE</jats:italic> mutations in Indians. In a cross‐sectional study, nine patients (eight families), from four referral hospitals in India, were studied for <jats:italic>AIRE</jats:italic> mutations by direct sequencing. We screened for new mutations in 150 controls by allele‐specific PCR. The patients had 1–7 known components of APECED. Three patients had unusual manifestations: presentation with type 1 diabetes; chronic sinusitis and otitis media; and facial dysmorphism. All patients carried homozygous, probably recessive, <jats:italic>AIRE</jats:italic> mutations. Two unrelated patients from a small in‐bred community (Vanika Vaisya) in south India carried an unreported missense mutation, p.V80G, in the N‐terminal caspase recruitment domain. Another unique mutation, p.C302X, resulting in a truncated protein with deletion of both zinc‐finger domains, was detected in a patient from Gujarat. Neither mutation was detected in controls. Other mutations, previously described in Caucasians, were: 13 base pair deletion (p.C322fsX372) in 4 (38%), and Finn‐major (p.R257X) and p.R139X (Sardinian) mutation in one subject each. In conclusion, in this first series of APECED in Indians, we detected <jats:italic>AIRE</jats:italic> mutations previously reported in Caucasians, as well as unique mutations. Of these, p.V80G is possibly an ancestral mutation in an in‐bred community.</jats:p> Two novel <i>AIRE</i> mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians Clinical Genetics |
| spellingShingle | Zaidi, G, Sahu, RP, Zhang, L, George, G, Bhavani, N, Shah, N, Bhatia, V, Bhansali, A, Jevalikar, G, Jayakumar, RV, Eisenbarth, GS, Bhatia, E, Clinical Genetics, Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians, Genetics (clinical), Genetics |
| title | Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians |
| title_full | Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians |
| title_fullStr | Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians |
| title_full_unstemmed | Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians |
| title_short | Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians |
| title_sort | two novel <i>aire</i> mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (apeced) among indians |
| title_unstemmed | Two novel AIRE mutations in autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) among Indians |
| topic | Genetics (clinical), Genetics |
| url | http://dx.doi.org/10.1111/j.1399-0004.2009.01280.x |