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GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.
Am J Med Genet A
November 2024
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Article Synopsis
- Lacrimal punctal agenesis is a rare condition linked to a variant in the GPC4 gene, which is associated with Keipert syndrome in a 3-year-old patient.
- This patient exhibited unique craniofacial features, mild developmental delays, and intellectual disabilities, with the absence of lacrimal puncta being a new finding in relation to the syndrome.
- The study suggests that GPC4 is significant in the development of lacrimal structures and recommends considering Keipert syndrome in cases of lacrimal punctal agenesis.
Generation of an induced pluripotent stem cell line ATCi002-A from a two-year-old chinese boy with Keipert syndrome.
Stem Cell Res
April 2022
Aegicare (Shenzhen) Technology Co., Ltd., Shenzhen 518060, China. Electronic address:
Keipert syndrome（KS, OMIM:301026) is a rare X-linked recessive inherited disorder characterized by distinctive facial appearance and digital abnormalities, and the disease is caused by hemizygous mutations in the GPC4 gene encoding the heparan sulfate proteoglycan glypican 4. We first established an induced pluripotent stem cell line (ATCi002-A) from PBMCs collected from a two-year-old boy patient with c.877 + 1G > A variant in the GPC4 gene, via reprogramming with KLF4, SOX2, OCT3/4, and c-MYC.
View Article and Find Full Text PDFPathogenic Variants in GPC4 Cause Keipert Syndrome.
Am J Hum Genet
May 2019
Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia. Electronic address:
Glypicans are a family of cell-surface heparan sulfate proteoglycans that regulate growth-factor signaling during development and are thought to play a role in the regulation of morphogenesis. Whole-exome sequencing of the Australian family that defined Keipert syndrome (nasodigitoacoustic syndrome) identified a hemizygous truncating variant in the gene encoding glypican 4 (GPC4). This variant, located in the final exon of GPC4, results in premature termination of the protein 51 amino acid residues prior to the stop codon, and in concomitant loss of functionally important N-linked glycosylation (Asn514) and glycosylphosphatidylinositol (GPI) anchor (Ser529) sites.
View Article and Find Full Text PDFA patient with Keipert syndrome and isolated fibrous dysplasia of the sphenoid sinus.
Am J Med Genet A
June 2011
Clinical Genetics Unit, Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey.
Keipert syndrome: two further cases and review of the literature.
Clin Dysmorphol
July 2008
Department of Medical Genetics, Addenbrooke's Hospital, Cambridge North West Thames Regional Genetics Service (Kennedy-Galton Centre), NWLH NHS Trust, Harrow Paediatric Department, The Hillingdon Hospital, Uxbridge, Middlesex Department of Radiology, Great Ormond Street Children's Hospital, London, UK.
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