What question did this study set out to answer?

To describe novel genetic mutations and expand the recognized clinical phenotype in individuals with suspected KBG syndrome.

January 1, 2019Molecular SyndromologyOpen Access

Novel Mutations and Unreported Clinical Features in KBG Syndrome

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Authors

ESEmanuela ScaranoAzienda USL di Bologna MTMartina TassoneIRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola CGClaudio GrazianoAzienda Unità Sanitaria Locale Della Romagna

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Implication

Case series uncovers novel ANKRD11 variants and atypical features in KBG syndrome, highlighting joint stiffness and hematological abnormalities as diagnostic clues.

Key Points

To describe novel genetic mutations and expand the recognized clinical phenotype in individuals with suspected KBG syndrome.
Evaluated 12 unrelated patients suspected of having KBG syndrome based on clinical presentation.
Performed targeted genetic analyses, including sequencing and deletion screening of ANKRD11 and the 16q24.3 chromosomal region.
Confirmed diagnoses in all 12 patients, identifying 9 novel point mutations in ANKRD11 and 3 microdeletions at 16q24.3.
Observed typical facial features, macrodontia, skeletal abnormalities, and behavioral anomalies across all patients, alongside frequent joint stiffness and brain malformations in 8 patients.
Identified hematological abnormalities in 2 patients and recorded significant increases in height velocity in 3 patients receiving growth hormone therapy.

Cite This Study

Scarano et al. (2019) studied this question.

synapsesocial.com/papers/69d8fed0ade63f05b9bee158 https://doi.org/10.1159/000496172

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Implication

Case series uncovers novel ANKRD11 variants and atypical features in KBG syndrome, highlighting joint stiffness and hematological abnormalities as diagnostic clues.

Novel Mutations and Unreported Clinical Features in KBG Syndrome

Discussion

Member takes

Implication

Key Points

Cite This Study

Novel Mutations and Unreported Clinical Features in KBG Syndrome

Discussion

Member takes

Implication

Key Points

Cite This Study

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