| Title |
Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1
|
|---|---|
| Published in |
Human Genetics, September 2005
|
| DOI | 10.1007/s00439-005-0036-6 |
| Pubmed ID | |
| Authors |
Helmut Grasberger, Martine Vaxillaire, Silvana Pannain, John C. Beck, Aviva Mimouni-Bloch, Vincent Vatin, Gilbert Vassart, Philippe Froguel, Samuel Refetoff |
| Abstract |
Permanent congenital hypothyroidism is the most prevalent inborn endocrine disorder, and principally due to developmental defects leading to absent, ectopic or hypoplastic thyroid gland. Although commonly regarded as sporadic disease, nonsyndromic thyroid hypoplasia has, in rare cases, been attributed to inherited defects in PAX8 and the TSHR gene. The shared clinical picture caused by these defects is a variable degree of thyrotropin resistance (RTSH [MIM 275200]), accompanied in its severe form by thyroid gland hypoplasia. We recently identified six extended kindreds with autosomal dominant RTSH, only one of which was linked to a mutation in the PAX8 candidate gene. Genome wide scans conducted in two of the remaining five families revealed independently significant linkage to chromosome 15q25.3-26.1, with maximum multipoint LOD scores of 8.51 and 4.31. Linkage to this novel locus was replicated (P<0.01) in each of the three remaining kindreds. Fine mapping of key recombinants in the largest family localized the causative gene within a 3 cM/2.9 Mb interval. Thus, we report the first locus for congenital nongoitrous hypothyroidism identified by a genome wide screening approach. |
Mendeley readers
The data shown below were compiled from readership statistics for 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 6% |
| Germany | 1 | 6% |
| Unknown | 14 | 88% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 4 | 25% |
| Researcher | 3 | 19% |
| Professor > Associate Professor | 3 | 19% |
| Other | 2 | 13% |
| Student > Postgraduate | 2 | 13% |
| Other | 0 | 0% |
| Unknown | 2 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 4 | 25% |
| Biochemistry, Genetics and Molecular Biology | 3 | 19% |
| Agricultural and Biological Sciences | 3 | 19% |
| Business, Management and Accounting | 1 | 6% |
| Social Sciences | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 3 | 19% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 11 December 2020.
All research outputs
#7,452,489
of 22,783,848 outputs
Outputs from Human Genetics
#933
of 2,951 outputs
Outputs of similar age
#20,483
of 59,133 outputs
Outputs of similar age from Human Genetics
#7
of 23 outputs
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