A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.
Stickler syndrome, a clinically as well as molecularly heterogeneous connective tissue disorder, is predominantly inherited in an autosomal dominant manner and is considered complete penetrant. Previously, mosaicism in Stickler syndrome has been reported in only a few cases. We describe a child with Stickler syndrome due to a novel splice site mutation in COL11A1. Initially, Sanger sequencing of both parents showed normal test results for the mutation. Due to mild phenotypic traits, the father was tested again using a more sensitive method (NGS), and was found to have low-grade mosaicism in various tissue samples (range 7-22% of the DNA). Therefore, we recommend using sensitive genetic testing when mosaicism is suspected. Furthermore, we support previous suggestions of parental testing even when the parents of an affected patient do not have obvious phenotypic signs of Stickler syndrome.
Department of Clinical Genetics, Aarhus University Hospital, Denmark.
Kathrine F
KF
Lauritsen
Department of Clinical Genetics, Aarhus University Hospital, Denmark.
Dorte L
DL
Lildballe
Department of Medical Genetics, Ghent University Hospital, Belgium.
Paul J
PJ
Coucke
Department of Paediatrics, Herning Region Hospital, Denmark.
Rikke
R
Monrad
Department of Ophthalmology, Aarhus University Hospital, Denmark.
Dorte A
DA
Larsen
Department of Clinical Genetics, Aarhus University Hospital, Denmark; Centre for Rare Disorders, Department of Paediatrics, Aarhus University Hospital, Denmark. Electronic address: pernille.axel.gregersen@gmail.com.
Pernille A
PA
Gregersen
D002648:Child; D024161:Collagen Type XI / Q000172:deficiency* / Q000235:genetics; D003240:Connective Tissue Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism; D020255:Vitreous Detachment / Q000235:genetics*
D024161:Collagen Type XI