Genetics for ENT Specialists: The Molecular Genetic Basis of by Dirk Kunst;Hannie Kremer;Cor Cremers

By Dirk Kunst;Hannie Kremer;Cor Cremers

A new quantity within the Genetics sequence – handy reference publications designed to assist clinicians follow the wealth of recent genetic info to their medical perform. The sequence is edited by way of clinical geneticist Eli Hatchwell of chilly Spring Harbor Laboratory, long island, and every booklet is authored through revered experts within the field.

The so much favourite ENT issues are those who impact listening to – nearly 1 in 1,000 young children is born with a critical listening to impairment, and in a minimum of half those situations the reason is inherited. lately, massive growth has been made within the box of molecular genetic reports on hereditary sensorineural listening to impairment, and it has lately turn into attainable to make genetic diagnoses in accordance with molecular exams in more and more otologic disorders.

This publication offers practitioners with a concise review of advances during this vital box of drugs and should facilitate more advantageous administration of sufferers with ENT problems. For otorhinolaryngologists, scientific geneticists, genetics counselors, and pediatricians.

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Additional resources for Genetics for ENT Specialists: The Molecular Genetic Basis of ENT Disorders (REMEDICA Genetics) by Dirk Kunst (2005-02-01)

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Counseling issues None DFNB9 MIM 601071 Clinical features Severe to profound SNHI affecting all frequencies, without vestibular symptoms. qxd 1/2/05 10:12 Page 48 Epidemiology This disease has been described in families from Lebanon, Turkey, the United Arab Emirates, and India, and in a Druze family. Importantly, this form of hearing impairment accounts for about 3% of recessively inherited SNHI in Spain. Inheritance Autosomal recessive Chromosomal location 2p22–p23 Genes OTOF (otoferlin) Mutational spectrum Nucleotide substitutions causing either missense or nonsense mutations have been found, in addition to a splice-site mutation.

Qxd 1/2/05 10:12 Page 50 Effect of mutation The recessively inherited mutation causes truncation of the encoded protein. Alpha-tectorin is one of the major components of the tectorial membrane, which is needed for deflection of the stereocilia of the hair cells. This deflection causes depolarization of the hair cells, which finally results in the perception of sound. Mutations lead to a disturbance in the structure of the tectorial membrane, thereby causing SNHI. Diagnosis The diagnosis is suggested by prelingual severe to profound SNHI.

The phenotype of this syndrome can be differentiated from that of DFNA1 because the latter shows more progression and a more severe type of SNHI. Mutation analysis may confirm the diagnosis. qxd Counseling issues 1/2/05 10:12 Page 25 Full penetrance has been reported. Speech and language acquisition are not jeopardized in families with this condition. As there are only minor variations in this impairment, individual phenotypic counseling is feasible. The use of a hearing aid may not be necessary in younger individuals, because hearing at the higher frequencies is sufficiently preserved to allow speech recognition.

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