TY  - JOUR
A1  - Vona, Barbara
A1  - Hofrichter, Michaela A. H.
A1  - Schröder, Jörg
A1  - Shehata-Dieler, Wafaa
A1  - Nanda, Indrajit
A1  - Haaf, Thomas
T1  - Hereditary hearing loss SNP-microarray pilot study
JF  - BMC Research Notes
N2  - Objectives:
Despite recent advancements in diagnostic tools, the genomic landscape of hereditary hearing loss remains largely uncharacterized. One strategy to understand genome-wide aberrations includes the analysis of copy number variation that can be mapped using SNP-microarray technology. A growing collection of literature has begun to uncover the importance of copy number variation in hereditary hearing loss. This pilot study underpins a larger effort that involves the stage-wise analysis of hearing loss patients, many of whom have advanced to high-throughput sequencing analysis.

Data description:
Our data originate from the Infinium HumanOmni1-Quad v1.0 SNP-microarrays (Illumina) that provide useful markers for genome-wide association studies and copy number variation analysis. This dataset comprises a cohort of 108 individuals (99 with hearing loss, 9 normal hearing family members) for the purpose of understanding the genetic contribution of copy number variations to hereditary hearing loss. These anonymized SNP-microarray data have been uploaded to the NCBI Gene Expression Omnibus and are intended to benefit other investigators interested in aggregating platform-matched array patient datasets or as part of a supporting reference tool for other laboratories to better understand recurring copy number variations in other genetic disorders.
KW  - copy number variation
KW  - genotyping arrays
KW  - hereditary hearing loss
KW  - illumina
KW  - infinium HumanOmni1-Quad
KW  - SNP-microarray
Y1  - 2018
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-176239
VL  - 11
IS  - 391
ER  - 
TY  - JOUR
A1  - Haaf, Thomas
A1  - Vona, Barbara
A1  - Nanda, Indrajit
A1  - Neuner, Cordula
A1  - Schröder, Jörg
A1  - Kalscheuer, Vera M.
A1  - Shehata-Dieler, Wafaa
T1  - Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature
N2  - Background

Terminal deletions of chromosome 4q are associated with a broad spectrum of phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of this syndrome renders genotype-phenotype correlation difficult, which is further complicated by the widely different phenotypes observed in patients sharing similar deletion intervals.

Case presentation

Herein, we describe a boy with congenital hearing impairment and a variety of moderate syndromic features that prompted SNP array analysis disclosing a heterozygous 6.9 Mb deletion in the 4q35.1q35.2 region, which emerged de novo in the maternal germ line.

Conclusion

In addition to the index patient, we review 35 cases from the literature and DECIPHER database to attempt genotype-phenotype correlations for a syndrome with great phenotypic variability. We delineate intervals with recurrent phenotypic overlap, particularly for cleft palate, congenital heart defect, intellectual disability, and autism spectrum disorder. Broad phenotypic presentation of the terminal 4q deletion syndrome is consistent with incomplete penetrance of the individual symptoms.
KW  - Genotype-phenotype association
KW  - Copy number variation
KW  - Parent-of-origin
KW  - SNP array
KW  - Terminal 4q deletion syndrome
Y1  - 2014
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-110540
ER  -