Identification of a HOXD13 mutation in a VACTERL patient
VACTERL acronym is assigned to a non‐random association of malformations in humans with poorly known etiology. It is comprised of vertebral defects (V), anal atresia (A), cardiac anomaly (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R) and limb lesions (L). Here, we r...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2008-12, Vol.146A (24), p.3181-3185 |
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| container_issue | 24 |
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| container_title | American journal of medical genetics. Part A |
| container_volume | 146A |
| creator | Garcia‐Barceló, Maria‐Mercè Wong, Kenneth Kak‐yuen Lui, Vincent Chi‐hang Yuan, Zhen‐wei So, Man‐ting Ngan, Elly Sau‐wai Miao, Xiao‐ping Chung, Patrick Ho‐yu Khong, Pek‐lan Tam, Paul Kwong‐hang |
| description | VACTERL acronym is assigned to a non‐random association of malformations in humans with poorly known etiology. It is comprised of vertebral defects (V), anal atresia (A), cardiac anomaly (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R) and limb lesions (L). Here, we report on, for the first time, a female patient with VACTERL association with a 21 base‐pair deletion in the exon 1 triplet repeats of HOXD13, a sonic hedgehog (SHH) downstream target. Our data provide the first piece of clinical evidence of the implication of the SHH pathway in VACTERL. Moreover, HOXD13 may not only be implicated in limb malformations but also in the development of gut and genitourinary structures, as predicted from the mouse models. © 2008 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.32426 |
| format | Article |
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It is comprised of vertebral defects (V), anal atresia (A), cardiac anomaly (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R) and limb lesions (L). Here, we report on, for the first time, a female patient with VACTERL association with a 21 base‐pair deletion in the exon 1 triplet repeats of HOXD13, a sonic hedgehog (SHH) downstream target. Our data provide the first piece of clinical evidence of the implication of the SHH pathway in VACTERL. Moreover, HOXD13 may not only be implicated in limb malformations but also in the development of gut and genitourinary structures, as predicted from the mouse models. © 2008 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.32426</identifier><identifier>PMID: 19006232</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - diagnostic imaging ; Abnormalities, Multiple - genetics ; Adolescent ; Amino Acid Sequence ; Anus, Imperforate - complications ; Anus, Imperforate - genetics ; Base Sequence ; Biological and medical sciences ; Complex syndromes ; DNA Mutational Analysis ; Esophageal Atresia - complications ; Esophageal Atresia - genetics ; Female ; Heart Defects, Congenital - complications ; Heart Defects, Congenital - genetics ; Homeodomain Proteins - genetics ; HOXD13 ; Humans ; Limb Deformities, Congenital - complications ; Limb Deformities, Congenital - diagnostic imaging ; Limb Deformities, Congenital - genetics ; Medical genetics ; Medical sciences ; Molecular Sequence Data ; Mutation - genetics ; Radiography ; sonic hedgehog ; Syndrome ; Tracheoesophageal Fistula - complications ; Tracheoesophageal Fistula - genetics ; Transcription Factors - genetics ; VACTERL</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am J Med Genet A</addtitle><description>VACTERL acronym is assigned to a non‐random association of malformations in humans with poorly known etiology. It is comprised of vertebral defects (V), anal atresia (A), cardiac anomaly (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R) and limb lesions (L). Here, we report on, for the first time, a female patient with VACTERL association with a 21 base‐pair deletion in the exon 1 triplet repeats of HOXD13, a sonic hedgehog (SHH) downstream target. Our data provide the first piece of clinical evidence of the implication of the SHH pathway in VACTERL. 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Wong, Kenneth Kak‐yuen ; Lui, Vincent Chi‐hang ; Yuan, Zhen‐wei ; So, Man‐ting ; Ngan, Elly Sau‐wai ; Miao, Xiao‐ping ; Chung, Patrick Ho‐yu ; Khong, Pek‐lan ; Tam, Paul Kwong‐hang</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4606-7913fac5b2a881dbac4da9b69eeeb44771e5760c801eab99c2499f0d21edb753</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Abnormalities, Multiple - diagnostic imaging</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Adolescent</topic><topic>Amino Acid Sequence</topic><topic>Anus, Imperforate - complications</topic><topic>Anus, Imperforate - genetics</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Complex syndromes</topic><topic>DNA Mutational Analysis</topic><topic>Esophageal Atresia - complications</topic><topic>Esophageal Atresia - genetics</topic><topic>Female</topic><topic>Heart Defects, Congenital - complications</topic><topic>Heart Defects, Congenital - genetics</topic><topic>Homeodomain Proteins - genetics</topic><topic>HOXD13</topic><topic>Humans</topic><topic>Limb Deformities, Congenital - complications</topic><topic>Limb Deformities, Congenital - diagnostic imaging</topic><topic>Limb Deformities, Congenital - genetics</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Molecular Sequence Data</topic><topic>Mutation - genetics</topic><topic>Radiography</topic><topic>sonic hedgehog</topic><topic>Syndrome</topic><topic>Tracheoesophageal Fistula - complications</topic><topic>Tracheoesophageal Fistula - genetics</topic><topic>Transcription Factors - genetics</topic><topic>VACTERL</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Garcia‐Barceló, Maria‐Mercè</creatorcontrib><creatorcontrib>Wong, Kenneth Kak‐yuen</creatorcontrib><creatorcontrib>Lui, Vincent Chi‐hang</creatorcontrib><creatorcontrib>Yuan, Zhen‐wei</creatorcontrib><creatorcontrib>So, Man‐ting</creatorcontrib><creatorcontrib>Ngan, Elly Sau‐wai</creatorcontrib><creatorcontrib>Miao, Xiao‐ping</creatorcontrib><creatorcontrib>Chung, Patrick Ho‐yu</creatorcontrib><creatorcontrib>Khong, Pek‐lan</creatorcontrib><creatorcontrib>Tam, Paul Kwong‐hang</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. 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It is comprised of vertebral defects (V), anal atresia (A), cardiac anomaly (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R) and limb lesions (L). Here, we report on, for the first time, a female patient with VACTERL association with a 21 base‐pair deletion in the exon 1 triplet repeats of HOXD13, a sonic hedgehog (SHH) downstream target. Our data provide the first piece of clinical evidence of the implication of the SHH pathway in VACTERL. Moreover, HOXD13 may not only be implicated in limb malformations but also in the development of gut and genitourinary structures, as predicted from the mouse models. © 2008 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>19006232</pmid><doi>10.1002/ajmg.a.32426</doi><tpages>5</tpages></addata></record> |
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| ispartof | American journal of medical genetics. Part A, 2008-12, Vol.146A (24), p.3181-3185 |
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| subjects | Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - genetics Adolescent Amino Acid Sequence Anus, Imperforate - complications Anus, Imperforate - genetics Base Sequence Biological and medical sciences Complex syndromes DNA Mutational Analysis Esophageal Atresia - complications Esophageal Atresia - genetics Female Heart Defects, Congenital - complications Heart Defects, Congenital - genetics Homeodomain Proteins - genetics HOXD13 Humans Limb Deformities, Congenital - complications Limb Deformities, Congenital - diagnostic imaging Limb Deformities, Congenital - genetics Medical genetics Medical sciences Molecular Sequence Data Mutation - genetics Radiography sonic hedgehog Syndrome Tracheoesophageal Fistula - complications Tracheoesophageal Fistula - genetics Transcription Factors - genetics VACTERL |
| title | Identification of a HOXD13 mutation in a VACTERL patient |
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