Prenatal and perinatal history in Kabuki Syndrome

Rosenberg, Chen E.; Daly, Tara; Hung, Christina; Hsueh, Irene; Lindsley, Andrew; Bodamer, Olaf A.

doi:10.1002/ajmg.a.61387

Cited by 14 publications

(16 citation statements)

References 43 publications

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“…Ultrasound scans showed a range of abnormalities including increased nuchal translucency, pleural effusion, cardiac anomaly, renal anomalies, intrauterine growth restriction, polyhydramnios, oligohydramnios and single umbilical artery. Similar antenatal presentations were also noted in the recent large case series and published case reports 8–40 . More than half of the cases were diagnosed after birth by clinical assessment and molecular testing.…”

Section: Discussionsupporting

confidence: 78%

“…In the prenatal setting, the congenital anomalies related to KS may be detectable on routine antenatal ultrasound examination. Some case reports and case series about antenatal sonographic features of postnatal confirmed KS patients have appeared in the literature 8–10 . With advancement in prenatal molecular technologies and discovery of causative genes, this syndrome can be diagnosed by next generation sequencing techniques in prenatal genetic testing.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal phenotype of Kabuki syndrome: A case series and literature review

Luk

Cheung

et al. 2021

Prenatal Diagnosis

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Objectives Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to investigate the prenatal features of fetuses with KS and to provide a comprehensive review of the literature on prenatal sonographic abnormalities associated with KS. Methods We retrospectively reviewed the prenatal ultrasound findings of all mothers of children with molecularly confirmed KS in Hong Kong, between 1991 and 2019. We also performed systematic review of the literature to identify studies on the prenatal findings in KS. Results We identified 11 cases with KS with detectable fetal ultrasound findings ranging from no detectable abnormalities to a variety of non‐specific findings including increased nuchal translucency, pleural effusion, cardiac anomalies, renal anomalies, intrauterine growth restriction, polyhydramnios, oligohydramnios and single umbilical artery. In combining our cases with the 77 cases published, 42 (50.6%) of them had more than one abnormal antenatal ultrasound finding. The most frequent ultrasound features observed were cardiac anomalies (49.4%), followed by polyhydramnios (28.9%), genitourinary anomalies (26.5%), single umbilical artery (15.7%), intrauterine growth restriction (14.5%) and hydrops fetalis/pleural effusion/ascites (12.0%). Conclusions These cases demonstrate the prenatal phenotypic heterogeneity associated with KS. Although the ultrasound abnormalities are non‐specific, KS should be considered in the differential diagnosis when these fetal findings following normal microarray analysis/karyotyping.

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Section: Discussionsupporting

confidence: 78%

Section: Introductionmentioning

confidence: 99%

Prenatal phenotype of Kabuki syndrome: A case series and literature review

Luk

Cheung

et al. 2021

Prenatal Diagnosis

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“…Fewer than 10% of patients with KS1 and/or clinically diagnosed KS have IUGR. 28 Interestingly 11 of 13 patients in our cohort known to have been born prematurely (before 37 weeks of gestation) were males. Birth length and HC in patients with pathogenic KDM6A variants were observed to be in normal-to-low range.…”

Section: Discussionmentioning

confidence: 88%

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Faundes

Goh

Akilapa

et al. 2021

Genetics in Medicine

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Purpose The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. Methods Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed. Results Sixty-one distinct pathogenic KDM6A variants (50 truncating, 11 missense) from 80 patients (34 males, 46 females) were identified. Missense variants clustered in the TRP 2, 3, 7 and Jmj-C domains. Truncating variants were significantly more likely to be de novo. Thirteen individuals had maternally inherited variants and one had a paternally inherited variant. Neonatal feeding difficulties, hypoglycemia, postnatal growth retardation, poor weight gain, motor delay, intellectual disability (ID), microcephaly, congenital heart anomalies, palate defects, renal malformations, strabismus, hearing loss, recurrent infections, hyperinsulinism, seizures, joint hypermobility, and gastroesophageal reflux were frequent clinical findings. Facial features of over a third of patients were not typical for KS. Males were significantly more likely to be born prematurely, have shorter stature, and severe developmental delay/ID. Conclusion We expand the KDM6A variant spectrum and delineate the KS2 phenotype. We demonstrate that the variability of the KS2 phenotypic depends on sex and the variant type. We also highlight the overlaps and differences between the phenotypes of KS2 and KS1.

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“…It is interesting that the most common syndromes in this study were Kabuki and CHARGE. Kabuki syndrome has a highly variable phenotype 33 . There is limited evidence with regard to its prenatal presentation, and the high incidence seen in this study has not been reported previously, although an overall association with postnatally diagnosed left-sided CHD has been established [33][34][35] .…”

Section: Discussionmentioning

confidence: 99%

COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review

Mone

Eberhardt

Morris

et al. 2020

Ultrasound in Obstet & Gyne

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What are the novel findings of this work? This is the first systematic review assessing the incremental yield of antenatal exome sequencing over chromosomal microarray analysis or karyotyping in prenatally diagnosed congenital heart disease. The results show an apparent incremental yield of exome sequencing in these cases. What are the clinical implications of this work? Depending on the presence of robust pathways, exome sequencing may be considered in prenatally diagnosed congenital heart disease, particularly for those with extracardiac abnormalities, while it may also be considered in cases that are isolated in nature.

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Prenatal and perinatal history in Kabuki Syndrome

Cited by 14 publications

References 43 publications

Prenatal phenotype of Kabuki syndrome: A case series and literature review

Prenatal phenotype of Kabuki syndrome: A case series and literature review

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review

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