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Eur J Med Genet. 2015 May;58(5):319-23. doi: 10.1016/j.ejmg.2015.03.005. Epub 2015 Apr 6.

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Author information

1
Victor Babeş National Institute of Pathology, Medical Genetics Laboratory, Bucharest, Romania.
2
Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, TU Dresden, Dresden, Germany.
3
Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, France.
4
Service de Génétique Clinique Guy Fontaine, Hôpital Jeanne de Flandre, Lille, France.
5
Victor Babeş National Institute of Pathology, Medical Genetics Laboratory, Bucharest, Romania; Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Bucharest, Romania.
6
Victor Babeş National Institute of Pathology, Medical Genetics Laboratory, Bucharest, Romania. Electronic address: andreea.cunita@ivb.ro.

Abstract

We report on the clinical data and molecular cytogenetic findings in three unrelated patients presenting with intellectual disability and behavior abnormalities. An overlapping microduplication involving 3p26.2-26.3 was identified in these patients. All three aberrations were confirmed and proven to be parentally inherited. The sizes of the duplications were different, with a common minimal region of 423,754 bp containing two genes - TRNT1 and CRBN. Here, we hypothesize that the copy number gain of CRBN gene might be responsible for developmental delay/intellectual disability.

KEYWORDS:

3p26.3p26.2 duplication; Behavior abnormalities; CRBN gene; Intellectual disability

PMID:
25858704
DOI:
10.1016/j.ejmg.2015.03.005
[Indexed for MEDLINE]

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