Fibulin-4: A novel gene for an autosomal recessive cutis laxa syndrome

Article Abstract:

A patient was identified with recessive inheritance of a missense mutation in the Fibulin-4 gene, who had multiple bone fractures at birth and was diagnosed with cutis laxa, vascular tortuosity, ascending aortic aneurysm, developmental emphysema, inguinal and diaphragmatic hernia, joint laxity and pectus excavatum by age 2 years. The findings concluded that Fibulin-4 is necessary for elastic fibre formation and connective tissue development.

Fibula, Cutis laxa

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Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

Article Abstract:

Mutation analyses are performed in 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, a homozygous nucleotide substitution in CACNA2D4 is detected. A premature stop codon that truncates one-third of the corresponding open reading frame is introduced by mutation, which defines a novel gene defect that causes autosomal recessive cone dystrophy.

Diagnosis, Night blindness

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Germline mutation of INI1/SMARCB1 in familial schwannomatosis

Article Abstract:

INI1 also known as SMARCB1 is considered an attractive candidate for representing the familiar schwannomatosis gene and therefore this gene was sequenced to find out whether INI1s involved in the familial schwannomatosis. Results reveal that INI1 germline mutations predispose individuals to familial schwannomatosis.

Neurofibromatosis, Report

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