2003
DOI: 10.1002/ajmg.a.20070
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Abstract: Knobloch syndrome is an autosomal recessive disease characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele, mainly in the occipital region. Intra and interfamilial variability is present since the encephalocele is not found in all patients, and the degree of myopia is variable. Analysis of the associated malformations suggests alterations during early neuroectodermal morphogenesis. Only 24 cases have been reported.… Show more

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Cited by 56 publications
(61 citation statements)
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“…Direct functional analysis of the single C. elegans collagen XV/XVIII locus cle-1 indicates that this gene is involved in cell migration, in particular in axon guidance, with expression associated with neural cells [18,19], similar to col 18a1 in mammals [52]. Assuming that this function was shared (and directly inherited) from the shared ancestor of the vertebrate and C. elegans sequences, this indicates that the family underwent functional diversification following the duplication events.…”
Section: Discussionmentioning
confidence: 96%
“…Direct functional analysis of the single C. elegans collagen XV/XVIII locus cle-1 indicates that this gene is involved in cell migration, in particular in axon guidance, with expression associated with neural cells [18,19], similar to col 18a1 in mammals [52]. Assuming that this function was shared (and directly inherited) from the shared ancestor of the vertebrate and C. elegans sequences, this indicates that the family underwent functional diversification following the duplication events.…”
Section: Discussionmentioning
confidence: 96%
“…Our groups and others have described NTDs in chromosomal and inherited syndromes, including trisomy 13 (13)(14)(15)(16), trisomy 18 (16 -19), trisomy 21, and 22q11.2 and 13q deletion syndromes (20)(21)(22)(23). In rare cases, syndromes that variably present with NTDs have been associated with a mutation in a single gene (24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36). Using traditional linkage disequilibrium, patient studies of individual (non-folate-related) candidate genes, including jumonji (JMJ) (37), apolipoprotein E (ApoE), apolipoprotein B (ApoB) (38), bone morphogenetic protein-4 (BMP4) (39), CITED2 (40), transcription factor AP2 (TFAP2) (41), multiple sequence homeobox-2 (MSX2) (41), PAX3 (42) and noggin (NOG) (43), have only rarely succeeded in ascribing attributable risk for NTDs to specific genes.…”
Section: Introductionmentioning
confidence: 99%
“…The functions of the LAR and extracellular matrix (ECM) interaction are not clear. Mutations in human collagen XVIII result in Knobloch's syndrome and defects in neural cell migrations (Kliemann et al, 2003). Mice lacking nidogen-1 exhibit motor deficits that suggest a neurological defect (Dong et al, 2002).…”
Section: Introductionmentioning
confidence: 99%