Holoprosencephaly in Kabuki syndrome

Daly, Tara; Roberts, Abra; Yang, Edward; Mochida, Ganeshwaran H.; Bodamer, Olaf A.

doi:10.1002/ajmg.a.61454

Cited by 5 publications

(4 citation statements)

References 30 publications

(45 reference statements)

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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%

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%

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

Luk

Cheung

et al. 2021

Prenatal Diagnosis

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“…The reported spectrum of congenital brain abnormalities continues to expand. Recently, a case of lobar holoprosencephaly was described [ 79 ].…”

Section: Resultsmentioning

confidence: 99%

From Genotype to Phenotype—A Review of Kabuki Syndrome

Barry

Tsaparlis

Hoffman

et al. 2022

Genes

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Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes of histone modification, including KMT2D and KDM6A. This review assesses our current understanding of KS, which was originally named Niikawa–Kuroki syndrome, and aims to guide surveillance and medical care of affected individuals as well as identify gaps in knowledge and unmet patient needs. Ovid MEDLINE and EMBASE databases were searched from 1981 to 2021 to identify reports related to genotype and systems-based phenotype characterization of KS. A total of 2418 articles were retrieved, and 152 were included in this review, representing a total of 1369 individuals with KS. Genotype, phenotype, and the developmental and behavioral profile of KS are reviewed. There is a continuous clinical phenotype spectrum associated with KS with notable variability between affected individuals and an emerging genotype–phenotype correlation. The observed clinical variability may be attributable to differences in genotypes and/or unknown genetic and epigenetic factors. Clinical management is symptom oriented, fragmented, and lacks established clinical care standards. Additional research should focus on enhancing understanding of the burden of illness, the impact on quality of life, the adult phenotype, life expectancy and development of standard-of-care guidelines.

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“…KMT2D variants have been previously reported in five patients with HPE. In two of the five patients, there was no description of the patients' other clinical features and it was unknown if the KMT2D variants were pathogenic, one patient had semi-lobar HPE and two had alobar HPE (Solomon et al, 2018;Daly et al, 2020;Tekendo-Ngongang et al, 2019).…”

Section: Discussionmentioning

confidence: 99%

“…In 2019, 3 cases of KS1 with holoprosencephaly (HPE) were reported for the first time. Although congenital heart defects (CHDs) have been reported in 70% of patients with KS1, only one of the three cases of KS1 with HPE had right ventricular dilatation and hypertrophy and none of them were reported to have structural heart defects (Tekendo-Ngongang et al, 2019;Daly et al, 2020). Additionally, no patient with KS has been reported to have truncus arteriosus (TA).…”

Section: Introductionmentioning

confidence: 99%

Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies

et al. 2021

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Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures with everted lateral third of the lower eyelids and typical facial features. Intracranial anomalies occur infrequently in patients with KS and holoprosencephaly has only been recently described. Additionally, though congenital heart diseases are common in patients with KS, to our knowledge truncus arteriosus has never been reported in a patient with KS. We present an unusual case of KS in an infant with holoprosencephaly and truncus arteriosus with partial anomalous pulmonary venous return. Duo whole exome sequencing in our patient identified a pathogenic nonsense variant in exon 10 of KMT2D (c.2782C > T; p. Gln928*) establishing the diagnosis. This report further expands the phenotypic spectrum of patients with Kabuki syndrome and emphasizes the utility of performing large scale sequencing in neonates with multiple congenital anomalies.

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Holoprosencephaly in Kabuki syndrome

Cited by 5 publications

References 30 publications

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

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

From Genotype to Phenotype—A Review of Kabuki Syndrome

Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies

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