KBG syndrome: An Australian experience

Natalia Murray, Bronwyn Burgess, Robin Hay, Alison Colley, Sulekha Rajagopalan, Julie McGaughran, Chirag Patel, Annabelle Enriquez, Linda Goodwin, Zornitza Stark, Tiong Tan, Meredith Wilson, Tony Roscioli, Mustafa Tekin, Himanshu Goel

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have been described with the expansion of the clinical phenotype. Here we present 18 KBG affected individuals from 13 unrelated families, 16 with pathogenic mutations in the ANKRD11 gene. Consistent features included intellectual disability, macrodontia, and the characteristic broad forehead with hypertelorism, and a prominent nasal bridge. Common features included hand anomalies, cryptorchidism, and a large number of palate abnormalities. Distinctive findings in this series included malrotation of the abdominal viscera, bilateral inguinal herniae in two patients, basal ganglia calcification and the finding of osteopenia in three patients. Nine novel heterozygous variants were found and the genotype-phenotype correlation was explored. This report highlights the need for thorough examination and investigation of the dental and skeletal systems. The results confirm the specificity of ANKRD11 mutations in KBG and further evidence for this transcription repressor in neural, cardiac, and skeletal development. The description of further cases of KBG syndrome is needed to further delineate this condition, in particular the specific neurological and behavioral phenotype.

Original languageEnglish (US)
Pages (from-to)1866-1877
Number of pages12
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number7
DOIs
StatePublished - Jul 1 2017

Fingerprint

Mutation
Hypertelorism
Phenotype
Cryptorchidism
Forehead
Viscera
Palate
Metabolic Bone Diseases
Inguinal Hernia
Genetic Association Studies
Basal Ganglia
Nose
Intellectual Disability
Genes
Tooth
Hand
KBG syndrome

Keywords

  • ANRKD11
  • intellectual disability
  • KBG syndrome
  • macrodonti

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Murray, N., Burgess, B., Hay, R., Colley, A., Rajagopalan, S., McGaughran, J., ... Goel, H. (2017). KBG syndrome: An Australian experience. American Journal of Medical Genetics, Part A, 173(7), 1866-1877. https://doi.org/10.1002/ajmg.a.38121

KBG syndrome : An Australian experience. / Murray, Natalia; Burgess, Bronwyn; Hay, Robin; Colley, Alison; Rajagopalan, Sulekha; McGaughran, Julie; Patel, Chirag; Enriquez, Annabelle; Goodwin, Linda; Stark, Zornitza; Tan, Tiong; Wilson, Meredith; Roscioli, Tony; Tekin, Mustafa; Goel, Himanshu.

In: American Journal of Medical Genetics, Part A, Vol. 173, No. 7, 01.07.2017, p. 1866-1877.

Research output: Contribution to journalArticle

Murray, N, Burgess, B, Hay, R, Colley, A, Rajagopalan, S, McGaughran, J, Patel, C, Enriquez, A, Goodwin, L, Stark, Z, Tan, T, Wilson, M, Roscioli, T, Tekin, M & Goel, H 2017, 'KBG syndrome: An Australian experience', American Journal of Medical Genetics, Part A, vol. 173, no. 7, pp. 1866-1877. https://doi.org/10.1002/ajmg.a.38121
Murray N, Burgess B, Hay R, Colley A, Rajagopalan S, McGaughran J et al. KBG syndrome: An Australian experience. American Journal of Medical Genetics, Part A. 2017 Jul 1;173(7):1866-1877. https://doi.org/10.1002/ajmg.a.38121
Murray, Natalia ; Burgess, Bronwyn ; Hay, Robin ; Colley, Alison ; Rajagopalan, Sulekha ; McGaughran, Julie ; Patel, Chirag ; Enriquez, Annabelle ; Goodwin, Linda ; Stark, Zornitza ; Tan, Tiong ; Wilson, Meredith ; Roscioli, Tony ; Tekin, Mustafa ; Goel, Himanshu. / KBG syndrome : An Australian experience. In: American Journal of Medical Genetics, Part A. 2017 ; Vol. 173, No. 7. pp. 1866-1877.
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