PNPT1 , MYO15A , PTPRQ , and SLC12A2 ‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India

2021 ◽  
Author(s):  
Paridhy Vanniya. S ◽  
Jayasankaran Chandru ◽  
Justin Margret Jeffrey ◽  
Tom Rabinowitz ◽  
Zippora Brownstein ◽  
...  
Keyword(s):  
Assortative Mating ◽  
Hearing Impaired ◽  
Phenotypic Heterogeneity ◽  
Southern India

scholarly journals Genetic and phenotypic heterogeneity in PNPT1, MYO15A, PTPRQ and SLC12A2 variants detected among hearing impaired assortative mating families in Southern India

2021 ◽  
Author(s):  
Paridhy Vanniya. S ◽  
Jayasankaran Chandru ◽  
Justin Margret Jeffrey ◽  
Tom Rabinowitz ◽  
Zippora Brownstein ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Assortative Mating ◽  
Vision Loss ◽  
Vestibular Dysfunction ◽  
Phenotypic Heterogeneity ◽  
Compound Heterozygous ◽  
South Indian ◽  
Myosin Motor Domain ◽  
Novel Variant ◽  
High Level

AbstractExome analysis was used to resolve the etiology of hearing loss (HL) in four South Indian assortative mating families. Six variants, including three novel ones, were identified in four genes: PNPT1 p.Ala46Gly and p.Asn540Ser, MYO15A p.Leu1485Pro and p.Tyr1891*, PTPRQ p.Gln1336*, and SLC12A2 p.Pro988Ser. Compound heterozygous PNPT1 variants were associated with prelingual profound sensorineural hearing loss (SNHL), vestibular dysfunction and unilateral progressive vision loss in one family. In the second family, MYO15A variants in the myosin motor domain, including a novel variant, were found to be associated with prelingual profound SNHL. A novel PTPRQ variant was associated with postlingual progressive sensorineural/mixed HL and vestibular dysfunction in the third family, with mastoid bone hypopneumatization observed in one family member. In the fourth family, the SLC12A2 novel variant was found to segregate with severe-to-profound HL causing DFNA78, across three generations. Our results suggest a high level of allelic, genotypic and phenotypic heterogeneity of HL in these families. This study is the first to report the association of PNPT1, PTPRQ and SLC12A2 variants with HL in the Indian population.

Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India

2020 ◽  
Vol 277 (11) ◽  
pp. 3021-3035
Author(s):  
Jayasankaran Chandru ◽  
Justin Margret Jeffrey ◽  
Amritkumar Pavithra ◽  
S. Paridhy Vanniya ◽  
G. Nandhini Devi ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Assortative Mating ◽  
Southern India ◽  
Slc26a4 Gene

Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family

2016 ◽  
Vol 274 (1) ◽  
pp. 119-125 ◽  
Author(s):  
Amritkumar Pavithra ◽  
Jayasankaran Chandru ◽  
Justin Margret Jeffrey ◽  
N. P. Karthikeyen ◽  
C. R. Srikumari Srisailapathy
Keyword(s):  
Assortative Mating ◽  
Hearing Impaired ◽  
Gjb2 Gene ◽  
Compound Heterozygosity ◽  
Indian Family ◽  
Recessive Mutations

Recurrence of reportedCDH23mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation

2017 ◽  
Vol 82 (2) ◽  
pp. 119-126 ◽  
Author(s):  
Paridhy Vanniya S ◽  
Jayasankaran Chandru ◽  
Amritkumar Pavithra ◽  
Justin Margret Jeffrey ◽  
Murugesan Kalaimathi ◽  
...  
Keyword(s):  
Assortative Mating ◽  
Hearing Impaired ◽  
South Indian

scholarly journals Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Pavithra Amritkumar ◽  
Justin Margret Jeffrey ◽  
Jayasankaran Chandru ◽  
Paridhy Vanniya S ◽  
M. Kalaimathi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Assortative Mating ◽  
South India ◽  
Hearing Impaired ◽  
Hereditary Hearing Loss

Low incidence of GIPC3 variants among the prelingual hearing impaired from southern India

2020 ◽  
Vol 99 (1) ◽  
Author(s):  
MURUGESAN KALAIMATHI ◽  
MAHALINGAM SUBATHRA ◽  
JUSTIN MARGRET JEFFREY ◽  
MATHIYALAGAN SELVAKUMARI ◽  
JAYASANKARAN CHANDRU ◽  
...  
Keyword(s):  
Hearing Impaired ◽  
Southern India ◽  
Low Incidence

Teacher Identification of Elementary School Children with Hearing Loss

1978 ◽  
Vol 9 (1) ◽  
pp. 24-28 ◽  
Author(s):  
Richard H. Nodar
Keyword(s):  
Elementary School ◽  
Hearing Loss ◽  
School Children ◽  
Elementary School Children ◽  
Total Sample ◽  
Hearing Impaired ◽  
Teacher Interviews ◽  
Teacher Screening ◽  
Children With Hearing Loss ◽  
Hearing Problems

The teachers of 2231 elementary school children were asked to identify those with known or suspected hearing problems. Following screening, the data were compared. Teachers identified 5% of the children as hearing-impaired, while screening identified only 3%. There was agreement between the two procedures on 1%. Subsequent to the teacher interviews, rescreening and tympanometry were conducted. These procedures indicated that teacher screening and tympanometry were in agreement on 2% of the total sample or 50% of the hearing-loss group. It was concluded that teachers could supplement audiometry, particularly when otoscopy and typanometry are not available.

Systematic Modification of Parental Input to Train Language Symbols

1981 ◽  
Vol 12 (1) ◽  
pp. 4-12 ◽  
Author(s):  
Barbara Culatta ◽  
Donna Horn
Keyword(s):  
Language Learning ◽  
Meaningful Use ◽  
Hearing Impaired ◽  
Specific Language ◽  
Parental Input ◽  
Language Exposure ◽  
Therapy Sessions ◽  
Impaired Children ◽  
Hearing Impaired Children ◽  
At Home

This study attempted to maximize environmental language learning for four hearing-impaired children. The children's mothers were systematically trained to present specific language symbols to their children at home. An increase in meaningful use of these words was observed during therapy sessions. In addition, as the mothers began to generalize the language exposure strategies, an increase was observed in the children's use of words not specifically identified by the clinician as targets.

Equivalent Noise Dose Obtained Through Hearing Aids in the Classrooms of Hearing-Impaired Children

1990 ◽  
Vol 21 (3) ◽  
pp. 147-150
Author(s):  
Ronald A. Wilde
Keyword(s):  
Hearing Aids ◽  
High Gain ◽  
Hearing Impaired ◽  
Deaf Children ◽  
Impaired Children ◽  
Very High ◽  
Hearing Impaired Children

A commercial noise dose meter was used to estimate the equivalent noise dose received through high-gain hearing aids worn in a school for deaf children. There were no significant differences among nominal SSPL settings and all SSPL settings produced very high equivalent noise doses, although these are within the parameters of previous projections.

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