Genetic Bases of Hearing Loss: Future Treatment Implications
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1 Genetic Bases of Hearing Loss: Future Treatment Implications Luis F. Escobar, MD Medical Director Medical Genetics & Neurodevelopmental Pediatrics of Indiana Peyton Manning Children s Hospital St. Vincent Hospital and Health Services Indianapolis, Indiana
2 1. Review Basic Concepts and Ideas 2. Review Gene Involvement in Hearing and Auditory organs development 3. Review some of the future forms of treatment involving hearing loss 4. Review the importance of recognizing that genetic testing does not equal to genetic evaluation
3 Special Needs Used in clinical diagnostic and functional development to describe individuals who require assistance : medical, mental, or psychological Special needsoften refers to special needs within an educational context. This is also referred to as special educational needs (SEN). In Germany a similar term exists. Special needs children are called "besondere Kinder" ("special children").
4 Special Needs Environmental Experience Me Family Friends School Community Genetic Inheritance Wilder Society
5 Establishment of a System
6 Medical Special Needs in the US 19% of Americans are classified as a person with a special need, which equals the population of thestates of FL and CA combined 41% of children with developmental difficulties have multiple special needs 17% of Americans will experience a communication disorder at some point in their life, which includes sensing, interpreting and responding (i.e. auditory processing disorder).
7 Medical Genetics 20-40% Of Children with hearing loss have other disabilities 900 Genetic conditions have been described to include hearing loss and other special needs 802 Conditions have been described to present with deafness Isolated hearing loss may not be the most common form of hearing loss in the future
8 Other Diagnoses Associated with Hearing Loss Gallaudet Research Institute, 2003 Diagnosis % Learning difficulties 10.7 Developmental delay 9.8 Attention difficulties 6.6 Blindness and low vision 3.9 Cerebral palsy 3.5 Emotional disturbance 1.5 Other conditions 12.1 TOTAL 48.1
9 Genetics: A case against perfection
10 Developments 1) Molecular/genetic understanding of hereditary hearing loss vastly enhanced over last 10 years Genetic testing and Genetic Evaluation is now an integral part on the assessment of children with hearing impairment 2) Early intervention [medical vs. surgical] now standard of care with limitations 3) Genetic treatment may be the choice in the future
11 11
12 Definition of Evolution Evolution is a process that results in heritable changes in a population spread over many generations
13 Evolution and Birth Defects Birth defects are suppose to happen Birth defects can be advantageous Birth defects can be deleterious In search of individuality Birth defects can be silent
14
15 Mutated mir-96 gene 14 April Chrissie Giles 15
16 Stage12-4 th week of gestation
17 Embryology of the ear placode Images of the lateral view of the human embryonic head from week 5(stage 14) through to week 8(stage 23)
18 RNA in situ hybridization of Pds in noncochlear regions of the mouse inner ear. Everett L A et al. PNAS 1999;96: by National Academy of Sciences
19 Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss Kemal O. Yariz, et al. AJHG Volume 91, Issue 5, 2 November 2012, Pages
20 Newborn mice lacking the Slitrk6 gene (right) have severe reductions in the numbers of nerve fiber bundles innervating the inner ear compared to wild-type animals (left).
21 The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear
22 Cochlea and Kidney a genetic relationship
23 Statoacustic ganglion Otocyst Basal turn of the cochlea Tip of digits Vibrissae Nasal/Oral epithelia Amniotic membrane
24 Multi-system gene expression: 30,000 genes
25 A systems Biology of early mouse inner ear organogenesis: gene expression, patterns, networks and pathways. Samin Ahmed Sajan, PhD. University of Washington, May 2008
26 An inner ear gene expression database. Chen ZY, Corey DP Assoc Res Otolaryngol Jun;3(2): Neurology Service, Massachusetts General Hospital, Boston 02114, USA. Microarray technology Mouse cochleas were examined at two developmental stages (P2 and P32) using GeneChip oligonucleotide arrays > 10,000 genes were found to be expressed in the cochlea
27 Gene Function and Hearing Developmental Time Gene Expression Gene Expression Transformation Gene Regulation Genetic susceptibility
28 Identifying Infants with Hearing Loss Undetected hearing loss can delay speech and language development All states and U.S. territories also have established Early Hearing Detection and Intervention (EHDI) programs
29 Infant Hearing Loss
30 Hearing Loss
31 Case 5 - CATSHL Camptodactyly Tall Stature Congenital bone abnormalities Congenital hearing loss diagnosed as isolated nonsyndromic at birth (moderate bilateral SNHL) Toydemir, et al. A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome, AJHG 2006; 79, 5 31
32 32 Mutation in FGFR3 (1862G A): CATSHL syndrome
33 RB
34 RB
35 CATSHL syndrome Mutation in the FGFR3 gene Chromosome 4
36 ENT Medical Work UP ABR testing - moderate CHL right and normal hearing left CT scan of temporal bones - bilateral dysplasia of bony labyrinths - normal cochleae, IACs, vestibular acqueducts, and ossicles - Possible anomaly of right facial nerve Testing for Pendred Syndrome - Insurance company rejected testing unless recommended by Medical Genetics Referral to Genetics
37 Medical Genetics Findings 1. Cervical fusion fusion of C1- C2, retrolisthesis of C3 on C4, C6 and C7 fusion 2. Facial asymmetry 3. Speech/language delay 4. Hand and arm anomalies 5. DX: Klippel Feil Syndrome 6. No Genetic testing needed
38 Klippel-Fiel Syndrome Most Common Associated Abnormalities Anomaly Percentage of Patients Congenital scoliosis > 50 % Rib abnormalities (excluding cervical ribs) 33% Deafness 30% Genitourinary abnormalities 25-35% Sprengel s deformity 20-30% Synkinesia 15-20% Cervical Ribs 12-15% Cardiovascular abnormalities 4-29% Tracy, M.R, Dormans, J.P., and Kusumi, P. Klippel-Fiel Syndrome, Clinical Orthopaedics and Related Research, 2004.
39 Hearing Loss
40 Clinical Application
41 Genetic Testing vs. Genetic Evaluation
42 Iris Colobomas Cat-Eye syndrome Preauricular tags/pits Stenotic ear canals 22q deletion Mixed Hearing loss 42
43 Robin Sequence Micrognathia Cleft palate Apnea 43
44 Stickler Syndrome -Micrognathia -Hypermobility -Mixed hearing loss -Mutation in Collagen gene
45 Clefting 45 Cleft lip/palate Van Der Wood syndrome
46 Genetic Testing:
47 Genetic Evaluation: Dysmorphology Exam Team agrees on Isolated hearing loss Hearing loss + recognizable syndrome Hearing loss + other findings but not recognizable syndrome 1. Otochip 2. Clinical Follow up 3. Metabolic testing 1. Targeted gene testing 2. Clinical Follow up 3. Management of comorbidity 1. Microarray analysis 2. Karyotype 3. Exome Sequencing
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