A Frameshift Mutation inGRXCR2Causes Recessively Inherited Hearing Loss

Recessively inherited myotonia congenita.

Recessively inherited coagulation disorders.

Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecu...

Recessively inherited brachydactyly type C.

The Bell classification of brachydactyly' divides this group of conditions into types Al to A5, B, C, D, and E. Fitch2 in 1979 suggested that types A4 to A5 be omitted because the latter is indistinguishable radiologically from type B, while type A4 is possibly a mild expression of Al. She suggested that type E should be further subdivided depending on which metacarpals are involved. The table ...

Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene

Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In s...

High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss

BACKGROUND Mutations in CDH23 are responsible for Usher syndrome 1D and recessive non-syndromic hearing loss. In this study, we revealed the prevalence of CDH23 mutations among patients with specific clinical characteristics. METHODS After excluding patients with GJB2 mutations and mitochondrial m.1555A > G and m.3243A > G mutations, subjects for CDH23 mutation analysis were selected accordin...