{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T00:20:49Z","timestamp":1740183649322,"version":"3.37.3"},"reference-count":25,"publisher":"Elsevier BV","issue":"03","license":[{"start":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T00:00:00Z","timestamp":1689552000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Funding agencies in the public, commercial, or not-for-profit sectors"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Glob Med Genet"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Joubert syndrome (JBTS) is a rare autosomal recessive or X-linked congenital brain malformation with strong genetic heterogeneity. Other neurological features of JBTS include hypotonia, ataxia, developmental delay, and cognitive impairment. Hearing loss with JBTS has been reported in the literature. We present the case of a 3.5-year-old boy born to a healthy consanguineous South Indian couple who was presented with ataxic cerebral palsy (CP) and hearing impairment; medical reports confirmed typical brain malformations of JBTS. Hearing impairment was screened by audiological assessment, which confirmed the presence of severe-profound hearing loss with outer hair cell dysfunction. Whole-exome sequencing (WES) was performed to know the molecular aspects of the condition and to detect any novel mutations. The homozygous mutation AHI1 c.2023G\u2009&gt;\u2009A associated with JBTS type 3 and GJB2 c.71G\u2009&gt;\u2009A mutation associated with hearing impairment were identified. Sanger sequencing was performed to validate the result and it identified heterozygous AHI1 c.2023G\u2009&gt;\u2009A and GJB2 c.71G\u2009&gt;\u2009A in the patient's parents. This study confirms the diagnosis of JBTS by WES helps identify the genetic causes of hereditary disorders that accelerate genetic evaluation and counseling for at-risk families.<\/jats:p>","DOI":"10.1055\/s-0043-1771184","type":"journal-article","created":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T17:30:26Z","timestamp":1690392626000},"page":"190-193","source":"Crossref","is-referenced-by-count":0,"title":["Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy"],"prefix":"10.1016","volume":"10","author":[{"given":"N.","family":"Sreedevi","sequence":"additional","affiliation":[{"name":"Department of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Swapna","sequence":"additional","affiliation":[{"name":"Department of Speech-Language Pathology, All India Institute of Speech and Hearing, Mysore, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Santosh","family":"Maruthy","sequence":"additional","affiliation":[{"name":"Department of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Jayakumar","sequence":"additional","affiliation":[{"name":"Department of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0724-3817","authenticated-orcid":false,"given":"Charles","family":"Sylvester","sequence":"additional","affiliation":[{"name":"Unit for Human Genetics, All India Institute of Speech and Hearing, Mysore, 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