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Long term follow‐up in a patient with a de novo microdeletion of 14q11.2 involving CHD8
Author(s) -
Drabova Jana,
Seemanova Eva,
Hancarova Miroslava,
Pourova Radka,
Horacek Martin,
Jancuskova Tereza,
Pekova Sona,
Novotna Drahuse,
Sedlacek Zdenek
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36957
Subject(s) - macrocephaly , intellectual disability , medicine , genetics , microdeletion syndrome , gene , phenotype , biology
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. © 2015 Wiley Periodicals, Inc.