Important References Smith RJH, Shearer AE, Hildebrand MS, Van Camp G. Deafness and Hereditary Hearing Loss Overview. In: Pagon RA et al, editors. Gene Reviews, Seattle (WA): University of Washington, Seattle; 1993-2014. Van Camp G, Smith RJH. [iccons.co.in]

Authors The Hereditary Hearing loss Homepage is maintained by Guy Van Camp, University of Antwerp [email protected] Richard Smith, University of Iowa [email protected] If you want something to be included, or if you have other comments or [hereditaryhearingloss.org]

Van Camp G, Smith RJH. The Hereditary Hearing Loss Homepage. Available at hereditaryhearingloss.org. 2010. Accessed 12-29-11. Van Camp G, Willems PJ, Smith RJ. Nonsyndromic hearing impairment: unparalleled heterogeneity. [consilieregenetica.org]

Smith, Richard JH; Sheffield, Abraham M; Camp, Guy Van (19 April 2012). Nonsyndromic Hearing Loss and Deafness, DFNA3. PMID 20301708. NBK1536. In GeneReviews Smith, Richard JH; Camp, Guy Van (2 January 2014). [en.wikipedia.org]

Hum Mutat. 1998; 11(5):387-394. 9600457 Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1. GeneReviews. 2008 Sep 28 (updated 2011 Jul 14). Available at . Accessed September 10, 2009. 20301449 Sobe T, Vreugde S, Shahin H, et al. [labcorp.com]

Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.com]

This option is available when the mutation is known and can be documented by the ordering physician. If the mutation cannot be documented, please order full gene sequencing. [labcorp.com]

Diagnosis of dementia in a heterogeneous population: a comparison of paradigm-based diagnosis and physician's diagnosis. Arch Neurol 1992;49461- 467 PubMed Google Scholar Crossref 29. [jamanetwork.com]

An enlarged vestibular aqueduct is associated with Pendred syndrome which causes a goiter around puberty age. [journals.lww.com]

A deficiency of thyroxin synthesis leads to an increase in the thyroid stimulating hormone and eventually enlargement of thyroid gland known as goiter 33. [ayubmed.edu.pk]

The syndrome is characterized by congenital sensorineural hearing loss that is usually (though not invariably) severe-to-profound and euthyroid goiter. Goiter is not present at birth and develops in early puberty (40%) or adulthood (60%). [consilieregenetica.org]

[…] hydroxysteroid 17-beta dehydrogenase 4 hydroxysteroid (17-beta) dehydrogenase 4 HSD17B4 SDR8C1 601860 5213 immunoglobulin-like domain containing receptor 1 deafness, autosomal recessive 42 ILDR1 DFNB42 609739 28741 KIT proto-oncogene receptor tyrosine kinase piebald [ukgtn.nhs.uk]

A chapter on epidemiology includes the prevalence of hearing impairment and several additional chapters are devoted to the various causative factors. [books.google.com]

Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and growth/size/body region Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently [malacards.org]

So far, more than 400 genes have been identified which are responsible for hearing impairment. Syndromic Hearing Impairment Patterns of Inheritance Hearing deficits can be inherited in one of the four ways: 1. Autosomal dominant 2. [iccons.co.in]

This site lists data and links for all known gene localizations and identifications for monogenic nonsyndromic hearing impairment. For syndromic hearing impairment, only a few of the most frequent monogenic forms are covered. [hereditaryhearingloss.org]

Nonsyndromic hearing impairment: unparalleled heterogeneity. [consilieregenetica.org]

Individual chapters give coverage to balance disorders, tinnitus, progressive hearing loss, auditory neuropathy, central auditory processing disorders and unilateral hearing impairment. [books.google.com]

Another OPA1 mutation (p.Tyr582Cys) is responsible for progressive hearing loss that necessitated cochlear implantation, macrocytic anemia, and hypogonadism [ 16 ]. [molvis.org]

Syndromic causes include Alport, Pendred, Waardenburg, CHARGE, branchio-oto-renal and X-linked progressive hearing loss with perilymphatic gusher. Non-syndromic causes include autosomal dominant, autosomal recessive, X-linked and mitochondria. [journals.lww.com]

Congenital hearing loss As opposed to acquired hearing loss, congenital hearing loss indicates the hearing problem is present in the child at birth. [artofhearing.com.au]

As her father had been a machinist, he and his doctor had always thought his hearing problems were because of his occupation but he found out later it was Alport. [pediatriceducation.org]

Screening tests for the GJB2 gene are available for at-risk people to help them determine their risk of having a child with hearing problems. [entnet.org]

Individual chapters give coverage to balance disorders, tinnitus, progressive hearing loss, auditory neuropathy, central auditory processing disorders and unilateral hearing impairment. [books.google.com]

Tinnitus was reported by some of the affected members, but no other consistent medical or physical abnormalities were detected. [nejm.org]

1997, Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. ‏ [books.google.com]

In the recessive model, 5 markers had LOD scores suggestive for linkage in the combined phenotypes and 3 markers were suggestive using the restricted phenotype. [jamanetwork.com]

SELECTED GENES FOR YOUR SLICE SUGGESTED CUSTOM SLICES Customize below OR enter Suggested Slice ID on printed requisition form (e.g. 706 XomeDx Slice - Slice ID: CS-Albinism). [genedx.com]

Authors The Hereditary Hearing loss Homepage is maintained by Guy Van Camp, University of Antwerp [email protected] Richard Smith, University of Iowa [email protected] If you want something to be included, or if you have other comments or suggestions [hereditaryhearingloss.org]

Finally, our study suggests that GJB2 should be screened for heterozygous mutations in patients with autosomal dominant isolated hearing impairment, whatever the severity of the disease. [jmg.bmj.com]

University Hospital, Angers, France Patrizia Amati-Bonneau Angers University Hospital, Angers, France Sharon Tow Singapore National Eye Centre, Singapore, Singapore Dominique Bonneau Angers University Hospital, Angers, France Vincent Procaccio Angers [iovs.arvojournals.org]

21, no 10, p. 2205-2210 Article in journal (Refereed) Published Abstract [en] Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy [diva-portal.org]

The atrophy of the superior vermis is common in both hereditary and acquired cerebellar ataxias but occurs more precociously in ARSACS, which suggests that it might be a congenital feature. 1, 3 In this report, MR imaging in our 5 patients demonstrated [ajnr.org]

ataxia, Pure 6, 5 11, 14, 15, 16, 22 Spasticity 3 1, 7 Peripheral neuropathy 3, 4, 18, 25 1 Cortical disorders Dementia 17, DRPLA 2, 13, 19, 21 Psychosis DRPLA, 17 3, 27 (Episodic) Epilepsy 10, DRPLA 17 Movement disorders Chorea DRPLA, 17 1 (Late stage [neuromuscular.wustl.edu]

Autosomal dominant cerebellar ataxias: a systematic review of clinical features. Eur J Neurol 2014; 21:607-615. Ruano L, Melo C, Silva MC, Coutinho P. [rarediseases.org]

Affected Family 2094 members carrying the mutation do present vestibular decline in the form of vertigo and balance difficulties. [research.library.mun.ca]

Author:Miyagawa, Maiko; Nishio, Shin-ya; Hattori, Mitsuru; Moteki, Hideaki; Kobayashi, Yumiko; Sato, Hiroaki; Watanabe, Tomoo; Naito, Yasushi; Oshikawa, Chie; Usami, Shin-ichi; Novel Mutations in GRXCRI at DFNB25 Lead to Progressive Hearing Loss and Dizziness [soar-rd.shinshu-u.ac.jp]

Correlation Between White Matter Lesions and Intelligence Quotient in Patients With Congenital Cytomegalovirus Infection. Pediatr Neurol,55:52-7 2016(Feb.) [soar-rd.shinshu-u.ac.jp]