Phenotypic Characterization of &lt;i&gt;DFNA24&lt;/i&gt;: Prelingual Progressive Sensorineural Hearing Impairment

Santos, Aurora; Häfner, Franziska M.; Huygen, P.L.M.; Linder, Thomas; Schinzel, Albert; Spillmann, Thomas; Leal, Suzanne M.

doi:10.1159/000093525

Cited by 3 publications

(1 citation statement)

References 18 publications

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“…In a Swiss-German kindred with autosomal dominant non-syndromic hearing loss, an autosomal dominant deafness locus, DFNA24 (MIM: 606282) was mapped to an 8.1 Mb region (chr. 4: 183,200,000-191,154,276 bp) (Figure 2 , orange) on chromosome 4q35qter [ 38 , 39 ]. However, in this context it is important to emphasize that 11 normal hearing terminal 4q deletion cases overlap completely and nine normal hearing cases overlap partially with the DFNA24 interval.…”

Section: Resultsmentioning

confidence: 99%

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature

et al. 2014

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BackgroundTerminal 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 presentationHerein, 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.ConclusionIn 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.

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Section: Resultsmentioning

confidence: 99%

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature

et al. 2014

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Non-syndromic hearing loss gene identification: A brief history and glimpse into the future

Vona¹,

Nanda²,

Hofrichter³

et al. 2015

Molecular and Cellular Probes

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From the first identified non-syndromic hearing loss gene in 1995, to those discovered in present day, the field of human genetics has witnessed an unparalleled revolution that includes the completion of the Human Genome Project in 2003 to the $1000 genome in 2014. This review highlights the classical and cutting-edge strategies for non-syndromic hearing loss gene identification that have been used throughout the twenty year history with a special emphasis on how the innovative breakthroughs in next generation sequencing technology have forever changed candidate gene approaches. The simplified approach afforded by next generation sequencing technology provides a second chance for the many linked loci in large and well characterized families that have been identified by linkage analysis but have presently failed to identify a causative gene. It also discusses some complexities that may restrict eventual candidate gene discovery and calls for novel approaches to answer some of the questions that make this simple Mendelian disorder so intriguing.

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Refining the audiological assessment in children using narrow-band CE-Chirp-evoked auditory steady state responses

Venail

Artaud

Blanchet

et al. 2014

International Journal of Audiology

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Phenotypic Characterization of <i>DFNA24</i>: Prelingual Progressive Sensorineural Hearing Impairment

Cited by 3 publications

References 18 publications

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature

Non-syndromic hearing loss gene identification: A brief history and glimpse into the future

Refining the audiological assessment in children using narrow-band CE-Chirp-evoked auditory steady state responses

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