Anil K. Lalwani

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Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22. Seven highly consanguineous families segregating nonsyndromic autosomal recessive deafness were analyzed to refine the DFNB12 locus. In a(More)
We have recently reported that OTOF underlies an autosomal recessive form of prelingual sensorineural deafness, DFNB9. The isolated 5-kb cDNA predicted a 1,230 amino acid (aa) C-terminus membrane-anchored cytosolic protein with three C2 domains. This protein belongs to a family of mammalian proteins sharing homology with the Caenorhabditis elegans fer-1.(More)
The authors had previously mapped a new locus-DFNA17, for nonsyndromic hereditary hearing impairment-to chromosome 22q12.2-q13. 3. DFNA17 spans a 17- to 23-cM region, and MYH9, a nonmuscle-myosin heavy-chain gene, is located within the linked region. Because of the importance of myosins in hearing, MYH9 was tested as a candidate gene for DFNA17. Expression(More)
The expression pattern of aquaporin-2 (AQP2), a vasopressin regulated member of the aquaporin gene family, in the cochlea and its potential role in Meniere's disease was investigated. RT-PCR screen of multiple rat tissues identified AQP2 transcripts in the cochlea, testis and kidney and an absence of tissue-specific splice variants. The level of AQP2(More)
This study investigated factors that affect the development of positive peer relationships among deaf children with cochlear implants. Ten 5- to 6-year-old deaf children with implants were observed under conditions varying peer context difficulty in a Peer Entry task. Results revealed better outcomes for deaf children interacting in one-on-one situations(More)
Aquaporin 4 (Aqp4), a member of a family of water transport proteins, is a candidate for playing a critical role in inner ear fluid homeostasis. In this study, we assess cross-species Aqp4 expression in the inner ear, sequence conservation in the 5'-UTR, and hearing in Aqp4 knockout mice. A single Aqp4 isoform was expressed in a highly conserved pattern(More)
The introduction of intraoperative cranial nerve monitoring in posterior fossa surgery has greatly aided the surgeon in identification and anatomic preservation of cranial nerves. As a result, the long-term function of the facial nerve continues to improve after removal of acoustic neuroma. Herein, we report our long-term (1 year or greater) facial nerve(More)
OBJECTIVE We sought to establish normative measurements of the inner ear using computed tomography (CT) of the temporal bone to aid in the diagnosis of inner ear malformations. STUDY DESIGN AND SETTING Prospective measurements of the inner ear structures were made on axial and coronal temporal bone CT scans on 15 patients with normal hearing and 15(More)
Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We(More)