Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.
Ectopia lentis (EL) is a zonular disease where alteration of the zonular fibers leads progressively to lens dislocation. It is most often associated with systemic diseases such as Marfan syndrome, Weill-Marchesani syndrome or homocystinuria. Isolated non syndromic ectopia lentis (IEL) is reported in families with autosomal inheritance, with dominant forms being more common than recessive. LTBP2 truncating mutations have been described as a cause of autosomal recessive ectopia lentis as a primary or secondary feature in patients showing ocular (eg, glaucoma) or extraocular manifestations (eg, Marfanoid habitus). Recently, ADAMTSL4 has been shown to be responsible for isolated autosomal recessive ectopia lentis in an inbred family. Herein we show a consanguineous family that carries a novel homozygous splice mutation IVS4-1G>A/IVS4-1G>A in ADAMTSL4 responsible for isolated autosomal recessive EL, thus confirming the involvement of this gene in this condition and underlining the major role of ADAMTS proteases in zonular fibers homeostasis.
Greene
V Bennouna
VB
Laboratoire de Génétique Médicale, Equipe Avenir-Inserm, Faculté de Médecine de Strasbourg, Université de Strasbourg, Strasbourg, France.
Stoetzel
C
C
Pelletier
V
V
Perdomo-Trujillo
Y
Y
Liebermann
L
L
Marion
V
V
De Korvin
H
H
Boileau
C
C
Dufier
J L
JL
Dollfus
H
H
D000071096:ADAMTS Proteins; D001036:Aphakia, Postcataract / Q000209:etiology / Q000628:therapy; D002675:Child, Preschool; D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004479:Ectopia Lentis / Q000235:genetics*; D005139:Eyeglasses; D007839:Functional Laterality; D005808:Genes, Recessive; D006801:Humans; D007908:Lens, Crystalline / Q000601:surgery; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis; D019699:Thrombospondins / Q000235:genetics*; D014792:Visual Acuity
C486779:ADAMTSL4 protein, human; D018389:Codon, Nonsense; D012333:RNA, Messenger; D019699:Thrombospondins; D000071096:ADAMTS Proteins