Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8

American Journal of Medical Genetics. Part a
Jana DrabovaZdenek Sedlacek

Abstract

We identified a de novo deletion of 14q11.2 in a Czech patient with developmental delay, mild autistic features, macrosomy, macrocephaly, orthognathic deformities, and dysmorphic facial features. The clinical follow-up of the patient lasting 14 years documented changes in the facial dysmorphism from infancy to adolescence. The deletion affects approximately 200 kb of DNA with five protein-coding genes and two snoRNA genes. Two of the protein-coding genes, SUPT16H and CHD8, have been proposed as candidate genes for a new microdeletion syndrome. Our patient further supports the existence of this syndrome and extends its phenotypic spectrum, especially points to the possibility that orthognathic deformities may be associated with microdeletions of 14q11.2. CHD8 mutations have been found in patients with neurodevelopmental disorders and macrocephaly. The HNRNPC gene, repeatedly deleted in patients with developmental delay, is another candidate as its 5́ end is adjacent to the deletion, and the expression of this gene may be affected by position effect.

References

Jan 1, 1999·DNA Research : an International Journal for Rapid Publication of Reports on Genes and Genomes·T NagaseO Ohara
Jun 25, 2009·European Journal of Human Genetics : EJHG·Rosanna WeksbergJ Bruce Beckwith
Aug 31, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Sanaa ChoufaniRosanna Weksberg
Aug 16, 2011·Nature Genetics·Gregory M CooperEvan E Eichler
Nov 19, 2013·American Journal of Medical Genetics. Part a·Gaetano TerroneEnnio Del Giudice

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Citations

Aug 16, 2016·European Journal of Medical Genetics·Jeroen BreckpotAnnick Vogels
Nov 14, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Philip J OstrowskiKatrina Tatton-Brown
Dec 12, 2019·Neurogenetics·Thomas SmolJamal Ghoumid

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