Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations

Author(s)

Linhares, Natalia D. ^[1] ; Svartman, Marta ^[2] ; Rodrigues, Tatiane C. ^[3] ; Rosenberg, Carla ^[3] ; Valadares, Eugenia R. ^[4]

Affiliation

^[1] Univ Fed Minas Gerais, Lab Cent Hosp Clin, Setor Citogenet, BR-30130100 Belo Horizonte, MG - Brazil

^[2] Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Biol Geral, BR-30130100 Belo Horizonte, MG - Brazil

^[3] Univ Sao Paulo, Inst Biociencias, Dept Genet & Biol Evolut, Sao Paulo - Brazil

^[4] Univ Fed Minas Gerais, Fac Med, Dept Propedeut Complementar, BR-30130100 Belo Horizonte, MG - Brazil

• Document type: Journal article
• Source: EUROPEAN JOURNAL OF MEDICAL GENETICS; v. 58, n. 5, p. 310-318, MAY 2015.
• Web of Science Citations: 4

Abstract

The 6p terminal deletions are rare and present variability of clinical features, which increases the importance of reporting additional cases in order to better characterize genotype-phenotype correlations. We report a 12-year-old girl with a de novo deletion in 6p25.1-pter characterized by high-resolution karyotyping and FISH. Further analysis using oligonucleotide array-CGH revealed a 5.06 Mb 6p25.1-pter deletion associated with a contiguous 1 Mb 6p25.1 duplication. The patient presented normal growth, developmental delay, frontal bossing, severe hypertelorism, corectopia, wide and depressed nasal bridge, mild learning disability, hearing loss and diffuse leukopathy. Additionaly, she presented peculiar phenotypic features reported herein for the first time in 6p25 deletion syndrome: cerebrospinal fluid fistula and bones resembling those seen in 3-M syndrome. The distinctive phenotype of the 6p25 deletion syndrome has been mainly correlated with the FOXC1 and FOXF2 genes deletions, both related mainly to eye development. We also consider the SERPINB6 as a candidate for sensorineural hearing loss and TUBB2A as a candidate for our patient's skeletal features. In addition, as our patient had a duplication including NRN1, a gene related with neurodevelopment, synaptic plasticity and cognitive dysfunction in schizophrenia, we suggest that this gene could be associated with her white matter abnormalities and neurocognitive phenotype. (C) 2015 Elsevier Masson SAS. All rights reserved. (AU)

• FAPESP's process: 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes
• Grantee: Carla Rosenberg
• Support Opportunities: Research Projects - Thematic Grants