Chromosomal anomalies in the etiology of anorectal malformations: A review

Marcelis, Carlo; Blaauw, Ivo de; Brunner, Han G.

doi:10.1002/ajmg.a.34253

Cited by 35 publications

(26 citation statements)

References 153 publications

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“…An anteriorly displaced anus is an ARM, which is a relatively frequent defect of hindgut development with an estimated incidence of 1 in 5,000 live births [Wang et al, 2015] and a heterogeneous aetiology with a contribution of both genetic and environmental factors. Chromosome imbalances are found in 4.5-11% of the ARM patients, and anomalies in 17 different chromosomes have been associated with ARM [Marcelis et al, 2011;Wong et al, 2013]. However, none of the reported individuals with a deletion overlapping the region deleted in our patient has this defect.…”

Section: Discussioncontrasting

confidence: 38%

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

Ronzoni

Novelli

Brisighelli

et al. 2016

Cytogenet Genome Res

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2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations. Based on the present and published patients with 2q33 deletions, we suggest that the critical region for the Glass syndrome may be larger than initially proposed. Moreover, we suggest that brain abnormalities might be an additional feature of the 2q33 microdeletion syndrome, but that anorectal malformation is likely not a key marker.

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Section: Discussioncontrasting

confidence: 38%

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

Ronzoni

Novelli

Brisighelli

et al. 2016

Cytogenet Genome Res

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“…Data on the incidence of ARM in South Africa as established in 2010 are in keeping with these statistics, reporting 3.13 per 10,000 live births in the Western Cape Province (unpublished data) and 2.5 per 10,000 live births in the more northern University of Witwatersrand referral area [7]. There are differences in the clinical presentation of these malformations, and they may present as either isolated deformities, with associated anomalies or as part of a syndrome [8]. These factors affect the surgical intervention needed, rehabilitation strategies, prognosis and quality of life of the patients.…”

Section: Introductionmentioning

confidence: 72%

Comparison in the incidence of anorectal malformations between a first- and third-world referral center

et al. 2015

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Purpose Aim of study was to evaluate the differences in incidence and presentation of anorectal malformations (ARMs) between selected Pediatric Surgery Divisions in the Republic of South Africa (ZAR) and Italy. Methods A retrospective cohort study involved analysis of clinical records of patients with ARM born between 2005 and 2012. Type of ARM, maternal age, birth weight, gestational age, presence of associated anomalies and delayed diagnosis were analyzed. Results 335 patients were included in this study. Of note, statistically significant differences between the African and European patient groups were observed in a male predominance in the ZAR patient population. In addition, female recto-perineal fistulas were diagnosed in significantly more Italian patients than in ZAR. Furthermore, a more advanced maternal age and a lower gestational age was noted in the European cohort with a minimal delay in initial diagnosis as opposed to the African counterpart. Both centers reported recto-perineal fistula as the most common malformation in male patients. Conclusion With the exception of perineal fistulas in females, the incidence of specific subtypes of ARMs was similar in the two groups. This may be of importance when extrapolating European study conclusion to the South African setting.

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“…Among the defined syndromic forms are chromosomal abnormalities (e.g., trisomy 13, 18, and 21; cat eye syndrome), monogenic syndromes (e.g., Townes–Rocks, Klippel–Feil, or Pallister–Hall), and associations (VATER/VACTERL). The recurrence risk for ARM lies within the recurrence risk for the malformation syndrome [1, 2]. …”

Section: Discussionmentioning

confidence: 99%

“…Although the aetiological factors remain largely unknown, genetic abnormalities have been reported in patients with ARM. Genetic studies of various syndromes involving ARM could provide insight into anorectal development and may be helpful in elucidating the etiology of ARM [1, 2]. …”

Section: Introductionmentioning

confidence: 99%

Anorectal malformation associated with a mutation in the P63 gene in a family with split hand–foot malformation

Yuan

Huang

et al. 2013

Int J Colorectal Dis

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PurposeThe aims of this study were to identify the mutation gene of a Chinese family with anorectal malformation (ARM) associated with split hand–foot malformation and to determine the spatiotemporal expression of the mutated gene during hindgut and anorectum development in human embryos.MethodA Chinese family with intrafamilial clinically variable manifestation was analyzed and primers were designed for exons 3–14 of P63, DLX5, DLX6, DAC, and HOXD13 as candidate genes and direct sequence analysis of the exons was performed. Immunohistochemical study of mutated gene in the hindgut and anorectum of human embryos of 4th–10th weeks was performed.ResultAffected individuals were found to have an Arg227Gln P63 gene mutation. From the 4th–10th weeks of gestation of the human embryo, the P63-positive cells were mainly located on the epithelium of the apical urorectal septum, hindgut, and cloacal membrane. After the anorectum ruptured during the 8th week, the P63 remained strongly immunoreactive on the epithelium of the anal canal and urethra, but the mucous membrane of the rectum exhibited no reaction.ConclusionsThe mutation identified strongly suggests a causal relationship between the ARM phenotype and P63. The expression of P63 was persistently active during the dynamic and incessant septation of the cloaca and hindgut, suggesting that P63 may play a pivotal role in the morphogenesis of the hindgut and anorectum.

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Chromosomal anomalies in the etiology of anorectal malformations: A review

Cited by 35 publications

References 153 publications

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

Comparison in the incidence of anorectal malformations between a first- and third-world referral center

Anorectal malformation associated with a mutation in the P63 gene in a family with split hand–foot malformation

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