High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

Deloge, Raymond Belanger; Zhao, Xiaonan; Luna, Pamela N.; Shaw, Chad A.; Rosenfeld, Jill A.; Scott, Daryl A.

doi:10.1038/s41431-022-01255-y

Cited by 6 publications

(6 citation statements)

References 46 publications

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“…In their study, Belanger Deloge et al [1] describe the exome analysis of 130 individuals with ARM, identified in a clinical database of about 17,000 individuals referred for exome analysis. In 45 of these individuals a definitive or probable diagnosis was made (34.6%).…”

Section: High Diagnostic Yield For Syndromic Armsmentioning

confidence: 99%

“…In 45 of these individuals a definitive or probable diagnosis was made (34.6%). Moreover, Belanger Deloge et al [1] identified eight phenotypic expansions of know genetic syndromes comprising Helmsmoortel-van der Aa syndrome (# 615873, ADNP), Bardet-Biedl syndrome 1 (# 209900, BBS1), Rubinstein-Taybi syndrome 1 (# 180849, CREBBP), Rubinstein-Taybi syndrome 2 (# 613684, EP300), Fanconi anemia, complementation group C (# 227645, FANCC), Kabuki syndrome 2 (# 300867, KDM6A), Luscan-Lumish syndrome (SETD2-related disorder) (# 616831, SETD2), and Coffin-Siris syndrome 4 (# 614609, SMARCA4). These findings suggest that single gene disorders underly a much larger proportion of syndromic ARMs than previously thought.…”

Section: High Diagnostic Yield For Syndromic Armsmentioning

confidence: 99%

“…On the contrary, Belanger Deloge et al [1] suggest that tests designed to identify monogenic etiologies may have lower diagnostic yields in individuals with ARM in the context of the VATER/VACTERL association (22.8% vs 44.1%). The authors suggest that the contribution of epigenetic and environmental factors might play a more important role in the formation of the VATER/ VACTERL association than previously thought.…”

Section: Arm In the Context Of The Vater/vacterl Associationmentioning

confidence: 99%

“…

CLASSIFICATION OF CONGENITAL ANORECTAL MALFORMATIONS (ARMS)In this issue if EJHG, Belanger Deloge et al [1] present the diagnostic yield of exome analysis among individuals with anorectal malformations (ARM). ARM comprise congenital malformations of the hindgut and represent the most common malformations of the lower digestive tract.

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confidence: 99%

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High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

Reutter

2023

Eur J Hum Genet

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CLASSIFICATION OF CONGENITAL ANORECTAL MALFORMATIONS (ARMS)In this issue if EJHG, Belanger Deloge et al. [1] present the diagnostic yield of exome analysis among individuals with anorectal malformations (ARM). ARM comprise congenital malformations of the hindgut and represent the most common malformations of the lower digestive tract. The overall prevalence ranges from two to five per 10,000 births [2]. Mild phenotypes as cutaneous perineal fistula may easily be missed, especially among affected females, which may partly explain male/female ratios being 1.2-1.6 [2]. In 2005, the Krickenbeck Conference on ARM developed standards for an "International Classification system" describing up to 10 distinct subtypes ranging from anal stenosis to severe and complex cloacal malformations [3]. All of these ARMs may occur isolated (non-syndromic ARMs), in combination with one or more co-occurring anomalies, or as part of a genetic syndrome (syndromic ARMs). Previous studies found up to 75% of individuals to present with additional anomalies [4]. Most of these co-occurring anomalies belong to the congenital anomaly spectrum of the VATER/VACTERL association. The VATER/VACTERL association refers to the nonrandom co-occurrence of at least three of the following component features: vertebral defects (V), ARMs (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L) [5]. In accordance with the case classification guidelines for the National Birth Defects Prevention Study [6], individuals with ARM with a chromosomal or single gene disorder, a defined clinical syndrome, mental retardation, and/or dysmorphisms have syndromic ARM. While about 10% of syndromic ARM might be explained by chromosomal disorders, the overall contribution of single gene disorders remains elusive [4]. Until today about 30 known monogenic syndromes have been described with ARM as an inherent phenotypic feature e.g., Baller-Gerold syndrome (#218600, RECQL4), Kabuki syndrome (#147920, KMT2D), Opitz-Kaveggia syndrome (#305450, MED12), Townes-Brocks syndrome 1 (#107480, SALL1).

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Section: High Diagnostic Yield For Syndromic Armsmentioning

confidence: 99%

Section: High Diagnostic Yield For Syndromic Armsmentioning

confidence: 99%

Section: Arm In the Context Of The Vater/vacterl Associationmentioning

confidence: 99%

“…

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mentioning

confidence: 99%

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High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

Reutter

2023

Eur J Hum Genet

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“…From simple anal malformations to complex anorectal malformations including various cloacal components, they exhibit a wide spectrum of severity. ARM is estimated to occur in approximately one out of every 5000 live births 1 It is intriguing that about 50% of ARM instances are classed as non‐syndromic, and the remaining 50% are associated with complex multiple congenital abnormalities, chromosomal aberrations, or recognized genetic syndromes. It is yet unknown what leads to non‐syndromic instances 2 .…”

Section: Introductionmentioning

confidence: 99%

Multidisciplinary strategies for managing acute watery diarrhea in children with congenital anorectal malformation and colostomy: A case study

Amin,

Manna,

Nahin

et al. 2023

Clinical Case Reports

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Key clinical messageCongenital anorectal malformation (ARM) is a diverse group of anomalies affecting the development of the anal and rectal regions, with an estimated incidence of one in every 5000 live births. The colostomy is commonly performed as part of the staged management of children with ARM to prevent complications. However, the presence of acute watery diarrhea in children with ARM and colostomy poses significant management challenges due to the altered anatomy and physiology affecting stool regulation and absorption, exacerbated by various factors including infections, dietary issues, medication side effects, and underlying gastrointestinal complications.This case study explores the complexities involved in managing acute watery diarrhea in children with congenital ARM and colostomy. A comprehensive literature review was conducted to examine the existing evidence on the subject. The study highlights the multidisciplinary approach required, involving pediatricians, surgeons, and other specialists, to provide comprehensive care and support for these children. Effective management of acute watery diarrhea in children with congenital ARM and colostomy necessitates collaboration between pediatricians and surgeons. Pediatricians play a crucial role in assessing hydration status, monitoring electrolyte balance, and providing appropriate fluid and nutritional management. Surgeons address the surgical aspects of care and coordinate interventions with the management of acute diarrhea. The study underscores the importance of a multidisciplinary approach to deliver comprehensive care, optimize outcomes, and improve the quality of life for affected children. The management of acute watery diarrhea in children with congenital ARM and colostomy presents significant challenges due to the complex interplay of anatomical, physiological, and clinical factors. A multidisciplinary approach involving pediatricians, surgeons, and other specialists is vital for providing comprehensive care and support. This case study emphasizes the need for further research, guidelines, and collaborative efforts to enhance the management strategies for this vulnerable population.

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Etiological concepts of gastrointestinal malformations/atresias

Reutter

2023

Monatsschr Kinderheilkd

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High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

Cited by 6 publications

References 46 publications

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

Multidisciplinary strategies for managing acute watery diarrhea in children with congenital anorectal malformation and colostomy: A case study

Etiological concepts of gastrointestinal malformations/atresias

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