Difference between revisions of "VACTERL"

From Embryology
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Prevalence and incidence data have been difficult to ascertain due to variable diagnostic criteria. Some reports suggest less than 1-9/100,000 infants, and the annual incidence has been reported to be 1/10,000 to 1/40,000 live births.
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* '''HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum'''{{#pmid:30887706|PMID30887706}} "The VATER/VACTERL association refers to the nonrandom co-occurrence of at least three of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). Patients presenting with two CFs have been termed VATER/VACTERL-like phenotypes. We surveyed the exome for recessive disease variants in three affected sib-pairs. Sib-pair 971 consisted of two brothers with ARM and additional hydronephrosis in one brother. Sib-pair 1098 consisted of two sisters with ARM. In family 1346, the daughter presented with ARM and additional hypoplasia of both small fingers and ankyloses. Her brother presented with unilateral isolated radial hypoplasia. Sib-pairs 971 and 1346 resembled a VATER/VACTERL-like phenotype. We detected a novel maternally inherited missense variant (c.1340G > T) and a rare paternally inherited deletion of the trans-allele in HSPA6 in both siblings of family 1346. HSPA6 belongs to the heat shock protein (HSP) 70 family. Re-sequencing of HSPA6 in 167 patients with VATER/VACTERL and VATER/VACTERL-like phenotypes did not reveal any additional bi-allelic variants. Until now, only TNF-receptor associated protein 1 (TRAP1) had been reported as an autosomal recessive disease-gene for the VATER/VACTERL association. TRAP1 belongs to the heat shock protein 90 family (HSP90). Both Hsp70 and Hsp90 genes have been shown to be important embryonic drivers in the formation of mouse embryonic forelimb tissue. Our results suggest HSPA6 as a new candidate gene in VATER/VACTERL-like phenotypes." [https://www.omim.org/entry/140555 OMIM HSPA6]
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== References ==
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===Reviews===
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===Articles===
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==External Links==
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{{External Links}}
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* [https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=603 Orphanet]
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* OMIM [https://www.omim.org/entry/192350 192350 VATER/VACTERL ASSOCIATION]
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* OMIM [https://www.omim.org/entry/276950 276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS]
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* OMIM [https://www.omim.org/entry/314390 VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX]
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* OMIM [https://www.omim.org/entry/140555 140555 HEAT-SHOCK 70-KD PROTEIN 6; HSPA6]
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* OMIM [https://www.omim.org/entry/142989 142989 HOMEOBOX D13; HOXD13]
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[[Category:Abnormal Development]][[Category:Chromosome]][[Category:Genetics]][[Category:Vertebra]][[Category:Heart]][[Category:Gastrointestinal Tract]][[Category:Renal]][[Category:Limb]]
 
[[Category:Abnormal Development]][[Category:Chromosome]][[Category:Genetics]][[Category:Vertebra]][[Category:Heart]][[Category:Gastrointestinal Tract]][[Category:Renal]][[Category:Limb]]

Revision as of 13:04, 13 April 2019

Embryology - 22 Sep 2019    Facebook link Pinterest link Twitter link  Expand to Translate  
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 ICD-11 - LD2F.11 VATER association - VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

Introduction

VACTERL/VATER are the acronyms used to describe a multi-system congenital malformations including at least three of the following:

  1. Vertebral defects
  2. Anal atresia
  3. Cardiac defects
  4. Tracheo-esophageal fistula
  5. Renal anomalies
  6. Limb abnormalities


Prevalence and incidence data have been difficult to ascertain due to variable diagnostic criteria. Some reports suggest less than 1-9/100,000 infants, and the annual incidence has been reported to be 1/10,000 to 1/40,000 live births.


Genetic Links: genetic abnormalities | maternal age | Trisomy 21 | Trisomy 18 | Trisomy 13 | Trisomy X | trisomy mosaicism | Monosomy | Fragile X | Williams | Alagille | Philadelphia chromosome | mitochondria | VACTERL | hydatidiform mole | epigenetics | Prenatal Diagnosis | Neonatal Diagnosis | meiosis | mitosis | International Classification of Diseases | genetics


Diagnosis Links: Prenatal Diagnosis | pregnancy test | amniocentesis | chorionic villus sampling | ultrasound | Alpha-Fetoprotein | Pregnancy-associated plasma protein-A | Fetal Blood Sampling | Magnetic Resonance Imaging | Computed Tomography | Non-Invasive Prenatal Testing | Fetal Cells in Maternal Blood | Preimplantation Genetic Screening | Comparative Genomic Hybridization | Genome Sequencing | Neonatal Diagnosis | Category:Prenatal Diagnosis | Fetal Surgery | Classification of Diseases | Category:Neonatal Diagnosis

Some Recent Findings

  • HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum[1] "The VATER/VACTERL association refers to the nonrandom co-occurrence of at least three of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). Patients presenting with two CFs have been termed VATER/VACTERL-like phenotypes. We surveyed the exome for recessive disease variants in three affected sib-pairs. Sib-pair 971 consisted of two brothers with ARM and additional hydronephrosis in one brother. Sib-pair 1098 consisted of two sisters with ARM. In family 1346, the daughter presented with ARM and additional hypoplasia of both small fingers and ankyloses. Her brother presented with unilateral isolated radial hypoplasia. Sib-pairs 971 and 1346 resembled a VATER/VACTERL-like phenotype. We detected a novel maternally inherited missense variant (c.1340G > T) and a rare paternally inherited deletion of the trans-allele in HSPA6 in both siblings of family 1346. HSPA6 belongs to the heat shock protein (HSP) 70 family. Re-sequencing of HSPA6 in 167 patients with VATER/VACTERL and VATER/VACTERL-like phenotypes did not reveal any additional bi-allelic variants. Until now, only TNF-receptor associated protein 1 (TRAP1) had been reported as an autosomal recessive disease-gene for the VATER/VACTERL association. TRAP1 belongs to the heat shock protein 90 family (HSP90). Both Hsp70 and Hsp90 genes have been shown to be important embryonic drivers in the formation of mouse embryonic forelimb tissue. Our results suggest HSPA6 as a new candidate gene in VATER/VACTERL-like phenotypes." OMIM HSPA6
More recent papers  
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Search term: VACTERL | VATER

Older papers  
These papers originally appeared in the Some Recent Findings table, but as that list grew in length have now been shuffled down to this collapsible table.

See also the Discussion Page for other references listed by year and References on this current page.

References

  1. Kause F, Zhang R, Ludwig M, Schmiedeke E, Rissmann A, Thiele H, Altmueller J, Herms S, Hilger AC, Hildebrandt F & Reutter H. (2019). HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res , , . PMID: 30887706 DOI.


Reviews

PubmedParser error: Invalid PMID, please check. (PMID: [1])


Articles

External Links

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Cite this page: Hill, M.A. (2019, September 22) Embryology VACTERL. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/VACTERL

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© Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G