What question did this study set out to answer?

Characterize the natural history and phenotypic progression of KBG syndrome to improve differential diagnosis and guide clinical management.

July 21, 2022Human Molecular GeneticsOpen Access

Natural history of KBG syndrome in a large European cohort

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Authors

LLLorenzo LobertiUniversity of Siena LBLucia Pia BrunoUniversity of Siena SGStefania GranataUniversity of Siena

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Implication

Cohort study reveals phenotypic progression and high rates of cerebral anomalies in KBG syndrome, highlighting key diagnostic features for earlier clinical management.

Key Points

Characterize the natural history and phenotypic progression of KBG syndrome to improve differential diagnosis and guide clinical management.
Evaluated a multicenter European collaborative cohort of 49 individuals diagnosed with KBG syndrome.
Applied array-based comparative genomic hybridization and next-generation sequencing to detect genomic copy number variants and single-nucleotide variants.
Intellectual disability was present in 82% of patients (predominantly mild to moderate), cerebral anomalies in 56%, dental anomalies (macrodontia, oligodontia, and dental agenesis) in 53%, and epilepsy in 26.5%.
Short stature persisted over time while occipitofrontal circumference normalized from a median of -0.88 SD at birth, with prenatal ultrasound anomalies noted in 28.5% of cases.
Identified pathogenic alterations were predominantly frameshift mutations, alongside three splicing variants causing premature termination.

Cite This Study

Loberti et al. (2022) studied this question.

synapsesocial.com/papers/6a71c37431a3df824329cc50 https://doi.org/10.1093/hmg/ddac167

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Implication

Cohort study reveals phenotypic progression and high rates of cerebral anomalies in KBG syndrome, highlighting key diagnostic features for earlier clinical management.

Natural history of KBG syndrome in a large European cohort

Discussion

Member takes

Implication

Key Points

Cite This Study

Natural history of KBG syndrome in a large European cohort

Discussion

Member takes

Implication

Key Points

Cite This Study

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