The first antenatal diagnosis of <scp>KBG</scp> syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including <scp>ANKRD</scp>11 associated with the disorder

Morton, Victoria Hodgetts; Quinlan-Jones, E; Butts, Natasha; Williams, Denise; Hamilton, S.; Marton, T.; Morris, RK

doi:10.1002/ccr3.1285

Cited by 4 publications

(8 citation statements)

References 10 publications

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“…The increased rates of perinatal complications in a cohort of individuals with KBG syndrome suggests that there may be an association between ANKRD11 mutations and adverse outcomes in fetuses and newborns. The cardiac deficits and small gestational age findings are consistent with past reports; 11,29 however, the other findings presented here have not been previously documented.…”

Section: Discussionsupporting

confidence: 92%

“…Limitations aside, this study further documents prenatal and neonatal phenotypes of KBG syndrome. There is one documented case of prenatal confirmation of KBG syndrome, in which a chromosomal microassay (CMA) demonstrated a fetus with a deletion of chromosome 16, including ANKRD11 11 ; however, more studies are needed to further elucidate the prenatal and neonatal phenotypes of KBG syndrome to create more targeted screening measures. More often than not, individuals with KBG syndrome are misdiagnosed or undiagnosed until later in life.…”

Section: Discussionmentioning

confidence: 99%

“…1 This is in part due to KBG syndrome ‘s varying phenotypes, which are sometimes considered clinically mild or bear few complications in the neonatal period. 11 It is also in part due to the lack of targeted prenatal testing and the lack of documentation of prenatal and neonatal signs and symptoms. Our report suggests the medical community needs to continue to document ultrasound findings, pregnancy complications, and postnatal complications.…”

Section: Discussionmentioning

confidence: 99%

“…To explore the importance of our findings, we compared the prevalence of perinatal outcomes in our cohort to the prevalence of these outcomes in the general population. There is only one report of a prenatal diagnosis of KBG syndrome, 11 and our work seeks to cumulatively report perinatal manifestations in individuals with KBG syndrome.…”

Section: Introductionmentioning

confidence: 99%

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Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome

Kierzkowska

Sarino

Carter

et al. 2023

Preprint

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Mutations in the Ankyrin Repeat Domain 11 (ANKRD11) gene are associated with KBG syndrome, a developmental disability that affects multiple organ systems and presents with a variety of skeletal, cardiac, gastrointestinal, and neuropsychiatric manifestations. The function of ANKRD11 in human growth and development is not well understood, but its importance is established by the fact that total gene knockout is lethal in mice embryos and by its role in chromatin regulation, transcription, and development. Individuals with KBG syndrome are often misdiagnosed or undiagnosed until later in life, due to a combination of varying phenotypes, lack of targeted prenatal screening, and lack of documentation of prenatal and neonatal symptoms. The present study aims to report perinatal outcomes in individuals with KBG syndrome and their families and compare them to the prevalence in the overall population. We obtained data from 42 individuals through videoconferences, notes, and emails. Our results show that 45.2% of our cohort was born by C-section, 33.3% had a congenital heart defect, 23.8% were born before 37-weeks' gestation, 23.8% were admitted to the NICU, 14.3% were small for gestational age, and 14.3% of the families in our cohort had a history of miscarriage. The prevalence of birth by C-section, premature birth, NICU admission, and small for gestational age was higher in our cohort compared to the overall population, including non-Hispanic and Hispanic populations. Other reports included feeding difficulties (21.4%), neonatal jaundice (14.3%), decreased fetal movement (7.14%), and pleural effusions in utero (4.67%). These findings suggest that there may be an association between ANKRD11 mutations and perinatal complications, and further research is needed to better assess the mechanisms behind this relationship. Comprehensive perinatal studies about KBG syndrome and updated documentation of its phenotypes can facilitate earlier detection, diagnosis, and treatment.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome

Kierzkowska

Sarino

Carter

et al. 2023

Preprint

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“…All babies reached a gestation age of at least 36 weeks, and the vast majority were delivered at term. In 2017, Victoria Hodgetts Morton et al 4 reported a case of KBGS in a fetus with a 16q24.3 microdeletion that was prenatally diagnosed due to enhanced intestinal echogenicity, but the autopsy revealed a more severe phenotype: triangular face pattern, hypoplastic ears, cryptorchidism, and pulmonary dysplasia. Novara et al 7 compared the phenotypes of KBGS with ANKRD11 mutation and KBGS with 16q24.3 microdeletion and found that KGBS with 16q24.3 microdeletion had a more severe phenotype.…”

Section: Discussionmentioning

confidence: 99%

A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature

Deng

Liu

Xie

et al. 2022

Clinical Case Reports

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Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome

Kierzkowska

Sarino

Carter

et al. 2023

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Ankyrin Repeat Domain 11 (ANKRD11) gene mutations are associated with KBG syndrome, a developmental disability that affects multiple organ systems. The function of ANKRD11 in human growth and development is not clear, but gene knockout or mutation are lethal in mice embryos and/or pups. In addition, it plays a vital role in chromatin regulation and transcription. Individuals with KBG syndrome are often misdiagnosed or remain undiagnosed until later in life. This is largely due to KBG syndrome's varying and nonspecific phenotypes as well as a lack of accessible genetic testing and prenatal screening. This study documents perinatal outcomes for individuals with KBG syndrome. We obtained data from 42 individuals through videoconferences, medical records, and emails. 45.2% of our cohort was born by C‐section, 33.3% had a congenital heart defect, 23.8% were born prematurely, 23.8% were admitted to the NICU, 14.3% were small for gestational age, and 14.3% of the families had a history of miscarriage. These rates were higher in our cohort compared to the overall population, including non‐Hispanic and Hispanic populations. Other reports included feeding difficulties (21.4%), neonatal jaundice (14.3%), decreased fetal movement (7.1%), and pleural effusions in utero (4.7%). Comprehensive perinatal studies about KBG syndrome and updated documentation of its phenotypes are important in ensuring prompt diagnosis and can facilitate correct management.

show abstract

The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder

Cited by 4 publications

References 10 publications

Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome

Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome

A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature

Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome

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