A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia
Objective. Familial dysalbuminemic hyperthyroxinemia (FDH) has now become an established cause for spurious asymptomatic hyperthyroxinemia. Several different codon mutations on albumin gene had been identified. We here provided an established but rarely reported heterozygous mutation based on gene s...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2019/5947415 |
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| author | Hongbing Liu Jianmin Ran Chuping Chen Guangshu Chen Ping Zhu Rongshao Tan Yan Liu |
| author_facet | Hongbing Liu Jianmin Ran Chuping Chen Guangshu Chen Ping Zhu Rongshao Tan Yan Liu |
| author_sort | Hongbing Liu |
| collection | DOAJ |
| description | Objective. Familial dysalbuminemic hyperthyroxinemia (FDH) has now become an established cause for spurious asymptomatic hyperthyroxinemia. Several different codon mutations on albumin gene had been identified. We here provided an established but rarely reported heterozygous mutation based on gene sequencing results from a Chinese family. Methods. The proband is a 14-year-old girl with light goiter and asymptomatic clinical presentations, whose thyroid function test by a one-step immunoassay showed increased free thyroxine (FT4) and free triiodothyronine (FT3) but nonsuppressed thyrotropin (TSH). All thyroid auto-antibodies were in the normal range. Blood samples were collected from her and most of her immediate family members for target gene sequencing and verification. Results. Hyperthyroxinemia was also confirmed in the proband’s mother and one of her uncles and his son. In the proband and these three pedigrees, the high-throughput gene screening sequencing and the following Sanger sequencing disclosed a heterozygous mutation in the albumin gene, which located in its exon 7 (c.725G > A), and correspondingly leads to an arginine replacement with a histidine (R242H) in its protein. This is an established mutation named as R218H if present without signal peptide sequence. Conclusions. For patients with asymptomatic hyperthyroxinemia, FDH should be clinically excluded before embarking on further investigations for other specific causes. |
| format | Article |
| id | doaj-art-0db2c24aa4a94c9ba2005ceb2c080b94 |
| institution | Kabale University |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-0db2c24aa4a94c9ba2005ceb2c080b942025-02-03T01:06:40ZengWileyInternational Journal of Endocrinology1687-83371687-83452019-01-01201910.1155/2019/59474155947415A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic HyperthyroxinemiaHongbing Liu0Jianmin Ran1Chuping Chen2Guangshu Chen3Ping Zhu4Rongshao Tan5Yan Liu6Endocrinology Department, Guangzhou Red Cross Hospital, Medical College of Jinan University, Guangzhou 510220, ChinaEndocrinology Department, Guangzhou Red Cross Hospital, Medical College of Jinan University, Guangzhou 510220, ChinaEndocrinology Department, Guangzhou Red Cross Hospital, Medical College of Jinan University, Guangzhou 510220, ChinaEndocrinology Department, Guangzhou Red Cross Hospital, Medical College of Jinan University, Guangzhou 510220, ChinaEndocrinology Department, Guangzhou Red Cross Hospital, Medical College of Jinan University, Guangzhou 510220, ChinaInstitute of Diseases-Oriented Nutrition Research, Guangzhou Red Cross Hospital, Medical College of Jinan University, Guangzhou 510220, ChinaInstitute of Diseases-Oriented Nutrition Research, Guangzhou Red Cross Hospital, Medical College of Jinan University, Guangzhou 510220, ChinaObjective. Familial dysalbuminemic hyperthyroxinemia (FDH) has now become an established cause for spurious asymptomatic hyperthyroxinemia. Several different codon mutations on albumin gene had been identified. We here provided an established but rarely reported heterozygous mutation based on gene sequencing results from a Chinese family. Methods. The proband is a 14-year-old girl with light goiter and asymptomatic clinical presentations, whose thyroid function test by a one-step immunoassay showed increased free thyroxine (FT4) and free triiodothyronine (FT3) but nonsuppressed thyrotropin (TSH). All thyroid auto-antibodies were in the normal range. Blood samples were collected from her and most of her immediate family members for target gene sequencing and verification. Results. Hyperthyroxinemia was also confirmed in the proband’s mother and one of her uncles and his son. In the proband and these three pedigrees, the high-throughput gene screening sequencing and the following Sanger sequencing disclosed a heterozygous mutation in the albumin gene, which located in its exon 7 (c.725G > A), and correspondingly leads to an arginine replacement with a histidine (R242H) in its protein. This is an established mutation named as R218H if present without signal peptide sequence. Conclusions. For patients with asymptomatic hyperthyroxinemia, FDH should be clinically excluded before embarking on further investigations for other specific causes.http://dx.doi.org/10.1155/2019/5947415 |
| spellingShingle | Hongbing Liu Jianmin Ran Chuping Chen Guangshu Chen Ping Zhu Rongshao Tan Yan Liu A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia International Journal of Endocrinology |
| title | A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia |
| title_full | A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia |
| title_fullStr | A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia |
| title_full_unstemmed | A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia |
| title_short | A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia |
| title_sort | chinese family with familial dysalbuminemic hyperthyroxinemia fdh due to r242h mutation on human albumin gene reevaluating the role of fdh in patients with asymptomatic hyperthyroxinemia |
| url | http://dx.doi.org/10.1155/2019/5947415 |
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