Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1
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 attribut...
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| Veröffentlicht in: | Human genetics 2005-12, Vol.118 (3-4), p.348-355 |
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| creator | GRASBERGER, Helmut VAXILLAIRE, Martine PANNAIN, Silvana BECK, John C MIMOUNI-BLOCH, Aviva VATIN, Vincent VASSART, Gilbert FROGUEL, Philippe REFETOFF, Samuel |
| description | 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 |
| doi_str_mv | 10.1007/s00439-005-0036-6 |
| format | Article |
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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.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/s00439-005-0036-6</identifier><identifier>PMID: 16189712</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Biological and medical sciences ; Chromosomes ; Chromosomes, Human, Pair 15 ; Classical genetics, quantitative genetics, hybrids ; College campuses ; Congenital diseases ; Congenital Hypothyroidism ; Congenital Hypothyroidism - genetics ; DNA Mutational Analysis ; Endocrine disorders ; Endocrinopathies ; Female ; Fundamental and applied biological sciences. Psychology ; Genes ; Genetic aspects ; Genetic disorders ; Genetic Linkage ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Genomes ; Genomics ; Genotype ; Human ; Human genetics ; Humans ; Hypothyroidism ; Inheritance Patterns ; Life Sciences ; Linkage (Genetics) ; Male ; Medical sciences ; Mutation ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; Pediatrics ; Pedigree ; Thyroid gland ; Thyroid hormones ; Thyroid. Thyroid axis (diseases) ; Thyrotropin</subject><ispartof>Human genetics, 2005-12, Vol.118 (3-4), p.348-355</ispartof><rights>2006 INIST-CNRS</rights><rights>COPYRIGHT 2005 Springer</rights><rights>Springer-Verlag 2005</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c546t-92ea9909869214c22545801363e70fe6ea93cb5041291bb0f612a51d4542a0d33</citedby><cites>FETCH-LOGICAL-c546t-92ea9909869214c22545801363e70fe6ea93cb5041291bb0f612a51d4542a0d33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17398126$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16189712$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-00174467$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>GRASBERGER, Helmut</creatorcontrib><creatorcontrib>VAXILLAIRE, Martine</creatorcontrib><creatorcontrib>PANNAIN, Silvana</creatorcontrib><creatorcontrib>BECK, John C</creatorcontrib><creatorcontrib>MIMOUNI-BLOCH, Aviva</creatorcontrib><creatorcontrib>VATIN, Vincent</creatorcontrib><creatorcontrib>VASSART, Gilbert</creatorcontrib><creatorcontrib>FROGUEL, Philippe</creatorcontrib><creatorcontrib>REFETOFF, Samuel</creatorcontrib><title>Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>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.</description><subject>Biological and medical sciences</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 15</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>College campuses</subject><subject>Congenital diseases</subject><subject>Congenital Hypothyroidism</subject><subject>Congenital Hypothyroidism - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Endocrine disorders</subject><subject>Endocrinopathies</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic disorders</subject><subject>Genetic Linkage</subject><subject>Genetics</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Genotype</subject><subject>Human</subject><subject>Human genetics</subject><subject>Humans</subject><subject>Hypothyroidism</subject><subject>Inheritance Patterns</subject><subject>Life Sciences</subject><subject>Linkage (Genetics)</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Pediatrics</subject><subject>Pedigree</subject><subject>Thyroid gland</subject><subject>Thyroid hormones</subject><subject>Thyroid. Thyroid axis (diseases)</subject><subject>Thyrotropin</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkl2LEzEUhgdR3O7qD_BGBkXFi6nn5HNyWZbVLRQEP24NaZpps8xMuslU7L83QweLXriEkK_nHM558xbFC4Q5AsgPCYBRVQHwPKmoxKNihoySCgnQx8UMKINKSJQXxWVKdwDIFeFPiwsUWCuJZFb8WG5cP_jGWzP40JehKU3ZBntIZRNi2Yd-G_wQQz7bvHe9H0xb7o77MOyOMfiNT12Z4-wuhi6k0LkS-T3hc1oRMcdnxZPGtMk9n9ar4vvHm2_Xt9Xq86fl9WJVWc7EUCnijFKgaqEIMksIZ7wGpII6CY0T-ZXaNQeGROF6DY1AYjhuGGfEwIbSq-L9Ke_OtHoffWfiUQfj9e1ipce73LtkTMifmNl3J3Yfw_3BpUF3PlnXtqZ3uU8tmSBSUqky-fa_pFAgeF3DgyCBGpUU-CCIios6d5_BV_-Ad-EQ-6yhJsg5kVCLDL0-QVvTOu37JgzR2DGjXkiFRORBztpMVP7Hwf0atuaQkl5-_fI3iyfWxpBSdM0fMRH06Dl98lzWk-vRc3qs4uVU6mHduc05YjJZBt5MgEnWtE00vfXpzEmq6lwA_Q3iZdfC</recordid><startdate>20051201</startdate><enddate>20051201</enddate><creator>GRASBERGER, Helmut</creator><creator>VAXILLAIRE, Martine</creator><creator>PANNAIN, Silvana</creator><creator>BECK, John C</creator><creator>MIMOUNI-BLOCH, Aviva</creator><creator>VATIN, Vincent</creator><creator>VASSART, Gilbert</creator><creator>FROGUEL, Philippe</creator><creator>REFETOFF, Samuel</creator><general>Springer</general><general>Springer Nature B.V</general><general>Springer Verlag</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>ISR</scope><scope>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>1XC</scope></search><sort><creationdate>20051201</creationdate><title>Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1</title><author>GRASBERGER, Helmut ; VAXILLAIRE, Martine ; PANNAIN, Silvana ; BECK, John C ; MIMOUNI-BLOCH, Aviva ; VATIN, Vincent ; VASSART, Gilbert ; FROGUEL, Philippe ; REFETOFF, Samuel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c546t-92ea9909869214c22545801363e70fe6ea93cb5041291bb0f612a51d4542a0d33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Biological and medical sciences</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 15</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>College campuses</topic><topic>Congenital diseases</topic><topic>Congenital Hypothyroidism</topic><topic>Congenital Hypothyroidism - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Endocrine disorders</topic><topic>Endocrinopathies</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic disorders</topic><topic>Genetic Linkage</topic><topic>Genetics</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genomes</topic><topic>Genomics</topic><topic>Genotype</topic><topic>Human</topic><topic>Human genetics</topic><topic>Humans</topic><topic>Hypothyroidism</topic><topic>Inheritance Patterns</topic><topic>Life Sciences</topic><topic>Linkage (Genetics)</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Non tumoral diseases. Target tissue resistance. Benign neoplasms</topic><topic>Pediatrics</topic><topic>Pedigree</topic><topic>Thyroid gland</topic><topic>Thyroid hormones</topic><topic>Thyroid. 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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.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>16189712</pmid><doi>10.1007/s00439-005-0036-6</doi><tpages>8</tpages></addata></record> |
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| subjects | Biological and medical sciences Chromosomes Chromosomes, Human, Pair 15 Classical genetics, quantitative genetics, hybrids College campuses Congenital diseases Congenital Hypothyroidism Congenital Hypothyroidism - genetics DNA Mutational Analysis Endocrine disorders Endocrinopathies Female Fundamental and applied biological sciences. Psychology Genes Genetic aspects Genetic disorders Genetic Linkage Genetics Genetics of eukaryotes. Biological and molecular evolution Genomes Genomics Genotype Human Human genetics Humans Hypothyroidism Inheritance Patterns Life Sciences Linkage (Genetics) Male Medical sciences Mutation Non tumoral diseases. Target tissue resistance. Benign neoplasms Pediatrics Pedigree Thyroid gland Thyroid hormones Thyroid. Thyroid axis (diseases) Thyrotropin |
| title | Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1 |
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