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Hearing Loss

What percent of congenital deafness is genetic? 60%
Of the genetic causes of congenital deafness, what percent is AR? 75%
What % of genetic deafness is non-syndromic? (AR, AD) 70% AR, 30% AD
Teratogen known to induce congenital hearing loss hydantoin
Prematurity and congenital deafness hyperbilrubinemia, low birthweight, NICU, ventilation, NICU, neonatal distress (?)
Other increased susceptabilities to congenital hearing loss ototoxic medds, meningitis
Congenital CMV neurosensory hearing loss, microcephaly, intracranial calcifications, mental retardation, CP, optic atrophy, reintopathy, cataracts, microhthalmia
Hearing loss and CMV... occurs in <5% of pregnancies
CMV crosses the placenta 30-40% of the time, with hearing loss occurring in 25% of these cases
The most common cause of congenital hearing loss, accounting for about 4000 LBs annually, may be... CMV
Epidemiology of NSHL AR- 80%, AD-15%, XL-5%, mt-2% (Empiric risk for single case 10%)
AR-NSHL usually congenital, severe to profound, 50% are of connecin 26
Connexin 26 (DFNb1/GJB2) 13q12, 2 common mutations that account for 10% of all pre-lingual deafness, 1 allele causes dominant deafness (DFNA3)
Connexin 26 Inner ear in the non-sensory epithelium of the Organ of Corti, potassium recycling pathway
Connexin 26 phenotype 1. Non-syndromic, normal vision and vestibular function, non-progressive, hearing loss is mild to profound with intra- and inter-familial variability and few kindreds are progressive and asymmetric
DFNB2/ MYO7A 11q13.5, expression only in hair cells of Organ of Corti, some mutations cause Usher Syndrome
AD-NSHL Usually post-lingual, progressive (onset in 2nd or 3rd decades)
XL-NSHL DFN3: progressive and mixed deafness with fixed stapes and perilympathetic gusher, a communication between meatus and cochlea, leads to gusher is the spates is disturbed.
Syndromic Hearing Loss 1. Aport 2. BOR 3. Jervell and Lnage-nielson, 4. NF type 2, 5. Pendred 6. Waardenburg
Alport syndrome Type 4, major collagen, neurosensory hearing loss
Branchio-Oto-Renal Syndrome 8q13.3, AD, inner ear malformations, renal anomalies including agenesis present
Jervell and Lange-Nielsen syndrome AR, profound congenital hearing loss, sudden death due to prolonged QT, high prevalence in Norway
Jervell and Lange-Nielsen syndrome genes KCNQ1 and KCNE2 (potassium channel genes AD or AR
Pendred syndrome neurosensory hearing loss with iodide tripping defect of the htyroid gland, thyroid disease may be clinically non-apparent, GOLD STANDARD: perchllorate washout, vestibular anomalies (23rd)
Pendred syndrome genes 7q21-24, 16 diffeernt mutations described in two common genes, transporter/chloride/iodide issues
Waardenburg syndrome Neurosensory hearing loss, lateral displacement of inner cnathi, lacrimal punctae
Isolated mitochondrial hearing loss Sometimes co-segregates with skin conditions, penetrance of hearing loss is extremely ehtnic dependent (modifier genes necessary)
Mitochondrial syndromes and hearing loss Diabetes-hearing loss after onset of diabetes, MELAS, Presbycusis
Hearing loss with visual problems (syndromes) 1. Usher syndrome, Wolfram, Norrie, MtDOs
Usher syndrome 1. Association of hearing loss with reinitis pigmentosa, at least 11 loci and 2 identified
Primary inner-ear malformations Michel and Mondini, and also enlarged vestibular aqueduct
Michel complete aplasia of inner ear structure
Mondini 1 1/2 tums of cochlea, dysplasia of apex
Medical genetics of hearing loss stage 1 medical genetics, audiology, otolaryngology
Medical genetics of hearing loss stage 2 vestibular, ophthalmology, CT of temporal bones, urinalysis/serum creatinine, serology
Medical genetics of hearing loss stage 3 perchlorate discharge (if CT abnormal), DNA, electrocardiogram, electroreinogram
Examples of gene testing for hearing loss 1. Connexin 26, Pendred syndrome, Stickler syndrome
Created by: KChatham
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