KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption

Assiry, Ali A; Albalawi, Alia M.; Zafar, Muhammad Sohail; Khan, Siraj DAA; Ullah, Anhar; Almatrafi, Ahmed; Ramzan, Khushnooda; Basit, Sulman

doi:10.1038/s41598-019-52935-7

Cited by 17 publications

(16 citation statements)

References 45 publications

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“…Recently, a KMT2C gene mutation has been identified as a cause of familial non-syndromic primary teeth retention, suggesting that KMT2C is also involved in the physiological eruption of permanent teeth, without other phenotypic abnormalities [ 11 ]. However, there is no history of this disorder both in our case and in the other description patients.…”

Section: Discussionmentioning

confidence: 99%

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review

et al. 2022

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Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a history of hypotonia and minor face anomalies. A systematic literature review was also performed. The patient was a 6-year-old Caucasian female. In the family history there was no intellectual disability or genetic conditions. Auxological parameters at birth were adequate for gestational age. Clinical evaluation at 6 months revealed hypotonia and, successively, delay in the acquisition of the stages of psychomotor development. Auditory, visual, somatosensory, and motor-evoked potentials were normal. A brain MRI, performed at 9 months, showed minimal gliotic changes in bilateral occipital periventricular white matter. Neuropsychiatric control, performed at 5 years, established a definitive diagnosis of childhood autism and developmental delay. Molecular analysis of the exome revealed a novel KMT2C missense variant: c.9244C > T (p.Pro3082Ser) at a heterozygous state, giving her a diagnosis of Kleefstra syndrome 2. Parents did not show the variant. Literature review (four retrieved eligible studies, 10 patients) showed that all individuals had mild, moderate, or severe ID; language and motor delay; and autism. Short stature, microcephaly, childhood hypotonia and plagiocephaly were also present. Conclusion. Kleefstra syndrome 2 is a difficult diagnosis of a rare condition with a high clinical phenotypic heterogeneity. This study suggests that it must be taken in account in the work-up of an orphan diagnosis of intellectual disability and/or autism spectrum disorder.

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Section: Discussionmentioning

confidence: 99%

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review

et al. 2022

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“…Illumina HiSeq 2000/2500 sequencer was used to perform exome sequencing. The protocol used for exome sequencing is described elsewhere (Assiry et al, 2019). Reads were analyzed using Burrows‐Wheeler Aligner (BWA) application of BaseSpace (Illumina Inc. 5200 Illumina Way San Diego, CA).…”

Section: Methodsmentioning

confidence: 99%

“…Illumina HiSeq 2000/2500 sequencer was used to perform exome sequencing. The protocol used for exome sequencing is described elsewhere (Assiry et al, 2019).…”

Section: Exome Sequencing and Data Analysismentioning

confidence: 99%

An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation

Zaka

Shahzad

Rao

et al. 2021

American J of Med Genetics Pt A

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Ellis-van Creveld (EvC) syndrome is an autosomal recessive disease, characterized by ectodermal, skeletal, and cardiac anomalies. We report intrafamilial phenotypic variability in three new EvC syndrome cases. Affected males in this study showed only ectodermal abnormalities, whereas an affected female showed the classical presentation of EvC Syndrome, including bilateral postaxial polydactyly of hands and feet, and congenital heart defects. Whole exome sequencing was performed to identify the causative variant, followed by validation and segregation analysis using Sanger sequencing. A homozygous deletion variant (c.731_757del) was identified in exon 6 of the EVC gene (NM_153717.2). The identified variant is considered to be the most likely candidate variant for the EvC syndrome in the family based on previous reports validating the role of EVC variants in the EvC syndrome. The disease correctly segregated in the family members, as all affected members were homozygous, and obligate carriers were heterozygous. Our family is remarkable in highlighting the variable expressivity of the EvC phenotype within the same family, due to a homozygous deletion mutation in the EVC gene. The variable expressivity might be due to the

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“…Mutations in several genes, such as parathyroid hormone receptor 1 (PTH1R) 15,16 and histone methyltransferase 2C (KMT2C), have been identified to be strongly associated with PFE. 17 Thus, for suspected PFE cases, genetic screening is recommended to facilitate diagnosis and treatment decisions.…”

Section: Failure Of Tooth Eruptionmentioning

confidence: 99%

<p>Review of Etiology of Posterior Open Bite: Is There a Possible Genetic Cause?</p>

Huang¹,

Shan²,

Ang³

et al. 2020

CCIDE

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Posterior open bite (POB) is one of the most severe malocclusions that can impair patients' masticatory functions, yet it is also a condition that is poorly understood and not well studied. Most reported cases are either sporadic or idiosyncratic with a diverse yet poorly understood etiology. Although primary failure of eruption (PFE), lateral tongue thrust, and certain medical syndromes or pathology of the temporomandibular joints have all been shown to cause POB, the complex interplay of environmental and genetic factors makes its etiopathogenesis a difficult subject to understand and investigate. Here, we provide a comprehensive review of the etiology of posterior open bite. Additionally, a genetic cause for POB is proposed through a report of an apparently non-syndromic familial case series with high POB penetrance across two generations. Further investigations of the gene(s) and mechanism(s) involved can not only provide a unique opportunity to better understand POB and the intricate muscular-occlusal relationship, but also offer powerful insight into the most effective approaches to clinical management of these (and potentially other) malocclusions.

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KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption

Cited by 17 publications

References 45 publications

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review

An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation

<p>Review of Etiology of Posterior Open Bite: Is There a Possible Genetic Cause?</p>

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