منابع مشابه
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
BSND encodes barttin, an accessory subunit of renal and inner ear chloride channels. To date, all mutations of BSND have been shown to cause Bartter syndrome type IV, characterized by significant renal abnormalities and deafness. We identified a BSND mutation (p.I12T) in four kindreds segregating nonsyndromic deafness linked to a 4.04-cM interval on chromosome 1p32.3. The functional consequence...
متن کاملMYO1F as a candidate gene for nonsyndromic deafness, DFNB15.
BACKGROUND Earlier studies have mapped the autosomal recessive nonsyndromic deafness locus, DFNB15, to chromosomes 3q21.3-q25.2 and 19p13.3-13.1, identifying one of these chromosomal regions (or possibly both) as the site of a deafness-causing gene. Mutations in unconventional myosins cause deafness in mice and humans. One unconventional myosin, myosin 1F (MYO1F), is expressed in the cochlea an...
متن کاملDrugs and nonsyndromic orofacial cleft: an update
Correspondence to: Francesco Carinci, MD Chair of Maxillofacial Surgery University of Ferrara Arcispedale S. Anna Corso Giovecca, 203 44100 Ferrara Italy Phone/Fax: +39.0532.455582 Web: www.carinci.org E-mail: [email protected] Abstract Nonsyndromic orofacial cleft (OFC) derives from an embryopathy with failure of the nasal processes and/or fusion of the palatal shelves. This severe birth defect is...
متن کاملInherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment
Hereditary ichthyoses are due to mutations on one or both alleles of more than 30 different genes, mainly expressed in the upper epidermis. Syndromic as well as nonsyndromic forms of ichthyosis exist. Irrespective of etiology, virtually all types of ichthyosis exhibit a defective epidermal barrier that constitutes the driving force for hyperkeratosis, skin scaling, and inflammation. In nonsyndr...
متن کاملDeletion 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...
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ژورنال
عنوان ژورنال: The Open Biology Journal
سال: 2009
ISSN: 1874-1967
DOI: 10.2174/1874196700902010080