Deletion of and Novel Missense Mutation in POU3F4 in 2 Families Segregating X-Linked Nonsyndromic Deafness
نویسندگان
چکیده
منابع مشابه
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness.
OBJECTIVE To analyze the physical manifestations and genetic features of 2 families segregating X-linked deafness, which is most commonly reported to be caused by mutations of the POU domain gene POU3F4 at the DFN3 locus. DESIGN Computed tomographic study of the temporal bone in probands from each family, followed by mutation screening and deletion mapping of POU3F4 in family members. SETTI...
متن کاملA POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family
BACKGROUND The molecular genetic research showed the association between X-linked hearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family. METHODS A series of clinical evaluations including medical history, otologic examinations, family history, audiologic testing, and a high-resolution computed tomograph...
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OBJECTIVES We report novel mutations in the POU3F4 gene resulting in congenital X-linked deafness DFN3, and describe the results of cochlear implantation in 4 boys (3 siblings) followed for an average of 3.5 years. METHODS The diagnosis of DFN3 was made in infant boys on the basis of the radiologic criteria of an underdeveloped modiolus, a wide cochlear fossette, and the presence of all cochl...
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متن کاملNonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]
X-linked intellectual deficiency (XLID) is a large group of genetic disorders. MED12 gene causes syndromic and nonsyndromic forms of XLID. Only seven pathological mutations have been identified in this gene. Here, we report a novel mutation segregating with XLID phenotype. This mutation could be in favor of genotype-phenotype correlations.
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ژورنال
عنوان ژورنال: Archives of Otolaryngology–Head & Neck Surgery
سال: 2005
ISSN: 0886-4470
DOI: 10.1001/archotol.131.12.1057