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Cite this page: Hill, M.A. (2021, April 13) Embryology VACTERL. Retrieved from


Birth Defects Res. 2019 Mar 18. doi: 10.1002/bdr2.1493. [Epub ahead of print] HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Kause F1, Zhang R1,2, Ludwig M3, Schmiedeke E4, Rissmann A5, Thiele H6, Altmueller J6,7, Herms S2,8,9, Hilger AC1,10, Hildebrandt F11, Reutter H1,12. Author information Abstract BACKGROUND: 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.

METHODS: 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.

RESULTS: 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.

CONCLUSIONS: 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.

© 2019 Wiley Periodicals, Inc.

KEYWORDS: HSPA6; VATER/VACTERL association; anorectal malformations; autosomal recessive inheritance; whole-exome sequencing PMID: 30887706 DOI: 10.1002/bdr2.1493


A rare case of laryngeal cleft in association with VACTERL and malrotation

Radiol Case Rep. 2018 Dec 6;14(3):315-319. doi: 10.1016/j.radcr.2018.11.002. eCollection 2019 Mar.

Jesse C1, Jonathan S1, Jeremy N1, June K1. Author information Abstract We report a rare case of a neonatal girl who presented with coughing and dyspnea immediately after feeds. At birth, she was noted to have an imperforate anus with a posterior fourchette fistula from which she was stooling. Initial imaging with radiography showed a normal bowel gas pattern; however, lumbar vertebral anomalies were noted. An upper GI series was performed and revealed a laryngeal cleft and malrotation. Ultrasound confirmed malrotation with an abnormal SMA-SMV relationship. Since laryngeal cleft is a rare condition and may not be known to most radiologists, its incidence is likely underestimated. It is important to note the association of laryngeal clefts with VACTERL and malrotation. In addition, it is essential not to confuse a laryngeal cleft with a tracheoesophageal fistula since the management differs.

KEYWORDS: Laryngeal cleft; Laryngotracheoesophageal cleft; Malrotation; VACTERL PMID: 30546815 PMCID: PMC6287062 DOI: 10.1016/j.radcr.2018.11.002