Mère | EPFL Graph Search

thumb|Statue du cimetière de Staglieno à Gênes (Italie). La mère est le parent biologique ou adoptif de sexe féminin d'un enfant et définie en langue française comme une . Le mot qui signifie « mère » est un des plus répandus au monde à travers toutes les langues indo-européennes (racine ma), ainsi que dans beaucoup d'autres (en chinois par exemple : pinyin ma). En français, le mot maman résulte d'une formation enfantine par redoublement, semblable au latin, au grec mamma qui veulent dire « sein » (cf. mamelle). Dans le cas des mammifères comme pour les humains par exemple, la mère porte l'enfant (d'abord appelé embryon puis fœtus) dans son utérus à partir de sa conception jusqu'à ce qu'il soit suffisamment développé pour naitre. C'est au terme de la grossesse que la mère accouche de l'enfant. Après la naissance, la poitrine de la mère produit du lait pour nourrir l'enfant. Pour les organismes non sexués, « mère » est parfois utilisé pour dire « parent », dans le cas des organismes

Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract

Tatiana Favez

Objective To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. Design, setting and participants The parents and their six children were included. They underwent a complete ophthalmic examination with fundus photography and optical coherence tomography (OCT). Intervention DNA was extracted from peripheral blood from all family members. Screening for mutations in genes known to be implicated in retinal disorders was done with the IROme, an in-solution enrichment array, followed by high-throughput sequencing. Validation of the results was done by bidirectional Sanger sequencing of ADAM9 exon 14, including exon-intron junctions. Screening of normal controls was done by denaturing high-performance liquid chromatography. Results arCRD was diagnosed in the mother and two of her children. Bilateral anterior polar and posterior subcapsular cataract was observed in the mother and bilateral dot cataract was diagnosed in three of the four children not affected with arCRD, one of whom also had glaucoma. The characteristics of the arCRD were childhood-onset visual impairment, reorganisation of the retinal pigment epithelium with mid-periphery greyish-white discolouration, attenuated retinal vasculatur and optic disc pallor. A coloboma-like macular lesion was observed in one of the arCRD-affected children. IROme analysis identified a c. 1396-2A>G homozygous mutation in the splice acceptor site of intron 13 of ADAM9. This mutation was homozygous in the two children affected by arCRD and in their affected mother. This mutation was heterozygous in the unaffected father and the four unaffected children. Conclusions and relevance We identified a novel autosomal recessive ADAM9 mutation causing arCRD in a consanguineous Egyptian family. The percentage of arCRD cases caused by mutation in ADAM9 remains to be determined. Few families are reported in the literature to date; hence extensive clinical descriptions of families with ADAM9 mutations are of significant importance.

Bmj Publishing Group2014

Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract

Tatiana Favez

Bmj Publishing Group2014