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. Recently, the gene responsible for the syndrome, mapped to 21q22.3, was identified. The present study reports on four new cases, revealing the existence of neuronal migratory defects associated with the disorder for the first time.
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Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.
Genes (Basel)
October 2024
Research Centre for Medical Genetics, 115522 Moscow, Russia.
Background/objectives: Knobloch syndrome 1 (KS) is an autosomal recessive inherited ocular syndrome characterized by a combination of high myopia, vitreoretinal degeneration, and occipital encephalocele. KS is caused by biallelic pathogenic variants in the gene. Diagnosing KS can be challenging due to its clinical heterogeneity and the rarity of the syndrome.
View Article and Find Full Text PDFAmniotic membrane graft for persistent macular hole following retinal detachment repair in Knobloch syndrome.
J AAPOS
December 2024
Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio. Electronic address:
We report the case of a 7-year-old girl with Knobloch syndrome who presented with retinal detachment due to a macular hole, which was treated with vitrectomy and silicone oil tamponade. The macular hole persisted, and recurrent silicone oil emulsification required exchanges, with two subsequent vitrectomies. Finally, an amniotic membrane graft was used to seal the macular hole in an effort to avoid silicone oil dependence for retinal attachment.
View Article and Find Full Text PDFNew kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.
Clin Genet
October 2024
Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
Article Synopsis
- - The p21-activated kinase (PAK) family regulates important cellular processes, including cell adhesion, movement, growth, and programmed cell death, with PAK2 specifically playing a role in apoptosis and angiogenesis.
- - A new missense variant, p.(Thr406Met), was discovered in a newborn with symptoms of Knobloch syndrome, alongside another variant, p.(Asp425Asn), both leading to significantly reduced PAK2 protein activity.
- - These findings suggest that deficiencies in PAK2 are linked to a second form of Knobloch syndrome, known as KNO2, supporting previous research on related PAK2 variants.
A variant in detected in an individual with Knobloch type 2 syndrome.
bioRxiv
April 2024
Connecticut Children's Medical Center, Hartford, CT 06106, USA.
P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel heterozygous missense variant in NM_002577.
View Article and Find Full Text PDFBackground: Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents two cases with different COL18A1 gene mutations, complicated by retinal detachment.
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