Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: GNPTAB

Green List (high evidence)

Ho et al report an infant case with MSS CSS and mutation in GNPTAB. Other cases in the literature have not been molecularly confirmed? Refs 81-84 in Twigg & Wilkie. Unpublished Oxford case. GeneReviews don't mention CSS - 'skull relatively normal CSS is regularly suspected but not formally confirmed'. Amber or green? added by GOSH: Cathey et al (2010) reported 14 ML II patients with craniofacial and/or skeletal abnormalities noted on the first day of life. GNPTAB pathogenic mutations identified and characterised. Alfadhel et al (2013) reported three ML II unrelated Saudi children with neonatal hyperparathyroidism, microcephaly, craniosynostosis, coarse facial features, cardiac involvement, and skeletal deformities. ; Review on behalf of Tracy Lester/Andrew Wilkie/GOSH

Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis II alpha/beta(I cell disease) - 252500

Publications

• 24891900

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GNPTAB; Suggested initial gene rating: green

Created: 5 Mar 2019, 11:21 a.m.

Comment when marking as ready: Craniosynostosis is a recognised complication of I-cell disease but diagnosis requires other clinical features to be present and should be confirmed biochemically

Created: 1 Feb 2016, 11:13 a.m.

Green List (high evidence)

Craniosynostosis is a recognised complication of I-cell disease but diagnosis requires other clinical features to be present and should be confirmed biochemically

Created: 14 Sep 2015, 3:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
I-cell disease

Publications

• 24891900