An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-Phenotype correlation

Article Abstract:

A Study provides molecular evidence implicating the role of a specific 3-bp inframe deletion of the neurofibromatosis type 1 (NF1) gene in the determination of a clinical phenotype such as development of cutaneous, subcutaneous and superficial plexiform neurofibromas. Molecular analysis led to the identification of the same 3-bp inframe deletion (c.2970-2972 delAAT) in exon 17 of the NF1 gene in all affected subjects.

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Deletions in CCM2 are a common cause of cerebral cavernous malformations

Article Abstract:

Multiplex ligation-dependent probe analysis is carried out in genes responsible for cerebral cavernous malformations (CCM) to analyze potential deletions or duplications in CCM-1, -2 and -3 mutation-negative probands within the genes as a common cause of CCM. The study documents that large deletions in the CCM2 gene represent a major cause of CCM.

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Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia

Article Abstract:

The article presents a study on the consanguineous family of three affected brothers in whom they had identified a homozygous mutation in the spermatogenesis-specific gene SPATA16. Results of which showed that identification of other partners like SPATA16 can elucidate acrosome formation.

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