Nonsendromik resesif işitme kaybında DFNB9 lokusu saptanması
Küçük Resim Yok
Tarih
1998
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
: İşitme kaybı insanda en sık görülen sensoriyel defekttir. Ancak çocukta görülen ileri derecedeki işitme kaybı hariç gü-nümüzde bu konuyla ilgili epidemiyolojik çalışmalar çok azdır. Çocukluk dönemi işitme kaybı prevalansı 1/1000'dir. ve bu-nun da %60'ı genetik bir nedene bağlıdır. Erken dönemede ortaya çıkan nonsendromik işitme kaybından 100 kadar gen so-rumlu tutulmaktadır. Bu genlerin haritalanması aşın genetik heterojenite ve sınırlı odyolojik ayrıcı özellikler nedeniyle çok güçtür. Bu çalışmada amaç, otozomal resesif geçiş gösteren bir aile bireylerinin klinik özelliklerini ortaya koymak ve kısaca ya-pılan moleküler biyolojik analizler hakkında bilgi vermektir. Kulak-burun-boğaz muayenelerinde herhangi bir patoloji saptan-mayan ve işitme kaybının tek semptom olduğu bu aile bireylerinde en önemli özellik, akraba evliliği sonrası ortaya çıkan ile-ri derecede nörosensoriyel işitme kaybıdır. Hastalardan alınan kanın mikrosatellit işaretleyiciler ile yapılan bağlantı (linkage) analizinden sonra 2 p22-23 kromozomunda DFNB9 lokusunda defekt olduğu ortaya konmuştur. Sonuç olarak, işitme kaybı-nın tek semptom olduğu ve birden çok etkilenen bireye sahip ailelerde, öncelikle fenotip özellikleri ortaya koyulmalı ve daha sonra da genotipi belirlemeye yönelik çalışmalara geçilmelidir. Ayrıca özellikle otozomal resesif geçişli genetik hastalıklardan kaçınmak için, akraba evliliklerinden kaçınılması için toplum her türlü yöntemle uyarılmalıdır.
Hearing loss is the most frequent sensory defect in humans. However, there are currently no consistent epi-demiological data for hereditary hearing loss, except for severe and profound hearing loss in early childhood. The prevalance for sensorineural hearing loss during childhood is estimated to be 1/1000, and approximately 60% is due to a genetic cause. Dozens of genes are thought to be responsible for the early onset ofnonsyndromic hearing loss. Moreover, the mapping of ge-nes for non-syndromic hearing loss has been difficult due to extreme genetic heterogeneity and the limitde audiological diffe-rentiation of hereditary hearing loss. The goal of this study is to describe the clinical characteristics of a family with an auto-somal recessive mode of inheritance and briefly the result of linkage analysis. No additional symtoms and clinical findings ot-her than sensorineural hearing loss of early onset were found during ENT examination. The major characteristic of the family was presence of the hearing handicapped members born after consanguinuous marriages. The linkage analysis of this family's members by using microsatellite markers revealed that there was a defect on chromosome 2p22-23 (DFNB9). In conclusion, the phenotypic charcteristics must be noted in detail in families with nonsyndromic hereditary hearing loss to enlighten the future molecular genetical investigations.
Hearing loss is the most frequent sensory defect in humans. However, there are currently no consistent epi-demiological data for hereditary hearing loss, except for severe and profound hearing loss in early childhood. The prevalance for sensorineural hearing loss during childhood is estimated to be 1/1000, and approximately 60% is due to a genetic cause. Dozens of genes are thought to be responsible for the early onset ofnonsyndromic hearing loss. Moreover, the mapping of ge-nes for non-syndromic hearing loss has been difficult due to extreme genetic heterogeneity and the limitde audiological diffe-rentiation of hereditary hearing loss. The goal of this study is to describe the clinical characteristics of a family with an auto-somal recessive mode of inheritance and briefly the result of linkage analysis. No additional symtoms and clinical findings ot-her than sensorineural hearing loss of early onset were found during ENT examination. The major characteristic of the family was presence of the hearing handicapped members born after consanguinuous marriages. The linkage analysis of this family's members by using microsatellite markers revealed that there was a defect on chromosome 2p22-23 (DFNB9). In conclusion, the phenotypic charcteristics must be noted in detail in families with nonsyndromic hereditary hearing loss to enlighten the future molecular genetical investigations.
Açıklama
Anahtar Kelimeler
Kulak, Burun, Boğaz
Kaynak
Kulak Burun Boğaz ve Baş Boyun Cerrahisi
WoS Q Değeri
Scopus Q Değeri
Cilt
6
Sayı
1
