Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome

Stephanie Sacharow, Deling Li, Yao-Shan Fan, Mustafa Tekin

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Haploinsufficiency of ANKRD11 encoding ankyrin repeat domain-containing protein 11 was recently reported as the cause of a syndrome due to microdeletion, characterized by intellectual disability with minor facial anomalies and short stature. Most recently, intragenic mutations of ANKRD11 were found in a cohort of patients with KBG syndrome. KBG is an autosomal dominant intellectual disability syndrome characterized by short stature, characteristic facial appearance, macrodontia, and skeletal anomalies. It remains unknown if deletion of the entire ANKRD11 causes KBG syndrome. We present a mother and child with a heterozygous 365Kb deletion at 16q24.3 containing ANKRD11, ZNF778, and SPG7 genes. The child presented with developmental delay, facial anomalies, hand anomalies, and a congenital heart defect. The mother has short stature, facial anomalies, macrodontia, hand anomalies, and learning disability. Both individuals had many findings reported in KBG syndrome and the family met the suggested diagnostic criteria. However, typical macrodontia with fused incisors, costovertebral anomalies, and delayed bone age were not present. We conclude that microdeletions involving ANKRD11 result in a phenotype similar to that of KBG syndrome.

Original languageEnglish
Pages (from-to)547-552
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number3
DOIs
StatePublished - Mar 1 2012

Fingerprint

Intellectual Disability
Hand
Mothers
Ankyrin Repeat
Haploinsufficiency
Congenital Heart Defects
Learning Disorders
Phenotype
Bone and Bones
Mutation
KBG syndrome
Genes
Proteins
SHORT syndrome
Single upper central incisor

Keywords

  • ANKRD11
  • Array CGH
  • KBG syndrome
  • Macrodontia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. / Sacharow, Stephanie; Li, Deling; Fan, Yao-Shan; Tekin, Mustafa.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 3, 01.03.2012, p. 547-552.

Research output: Contribution to journalArticle

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