Author/Editor		Medica, Igor; Rudolf, Gorazd; Balaban, Manuela; Peterlin, Borut
Title		C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment
Type		članek
Source		BMC ear, nose and throat disorders (online)
Vol. and No.		Letnik 5, št. 11
Publication year		2005
Volume		str. 1-4
Language		eng
Abstract		Background : C.35delG/GJB2 mutation is the most frequent genetic cause of deafness in Caucasians. Another frequent mutation in some Caucasian populations is del(GJB6-D13S1830). Both GJB2 and GJB6 genes belong to the same DFNB1 locus and when the two mutations are found in combination in a hearing-impaired person, a digenic pattern of inheritance is suggested. Methods : We examined 63 Croatian subjects (25 familial and 38 sporadic cases) with prelingual non-syndromic hearing impairment by polymerase chain reaction for the presence of the c.35delG/GJB2 and the del(GJB6-D13S1830) mutations. Results : Of the 63 unrelated hearing-impaired subjects, the mutation c.35delG/GJB2 was found in 21 subjects (33.3%). In 5 of them the mutation was found in the heterozygous state, all of them being compound heterozygotes, as sequencing revealed a second mutation within the coding region of the gene in 3 subjects, and a splice site mutation in 2 subjects.The del(GJB6-D13S1830) mutation was not found in the investigated hearing-impaired Croatian subjects. Conclusion: Our results contribute to the knowledge of geographic distribution and population genetics of the GJB2 and GJB6 mutations in the Europeans.
Descriptors		DEAFNESS MUTATION PHENOTYPE POLYMERASE CHAIN REACTION CROATIA