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J Pediatr Genet
DOI: 10.1055/s-0042-1756310
Case-Based Review

Phosphofurin Acidic Cluster Sorting Protein 1 Syndrome: Insights Gained on the Multisystem Involvement Reviewing Encoded Protein Interactions?

Seema Thakur
1   Department of Genetics and Fetal Diagnosis, Fortis Hospital, New Delhi, India
,
Preeti Paliwal 
2   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Rajni Farmania
3   Department of Pediatric Neurology, BLK-MAX Super Speciality Hospital, New Delhi, India
,
Vipin Khandelwal
4   Department of Hemato-oncology, BLK Max Super Specialty Hospital, New Delhi, India
,
Vivek Garg
5   Department of Ophthalmology, BLK Max Super Specialty Hospital, New Delhi, India
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Abstract

Mutations in PACS1 cause moderate-to-severe intellectual disability. Very few cases of PACS1 neurodevelopment disorder have been described in the literature that were identified using whole exome sequencing (WES). We report a case of de novo PACS1 mutation identified through WES after an initial workup for mucopolysaccharidosis. Through this case, we wish to emphasize that most important clinical clue in the facial gestalt is a downturned angle of mouth, thin lips, and wide mouth, giving characteristic wavy appearance of face that can distinguish these cases and can prevent unnecessary workup for the patients.

Keywords

PACS1 - genetic disorder - autosomal dominant

Data Availability Statement

Data can be accessed using the link for publication.




Publication History

Received: 23 November 2021

Accepted: 01 July 2022

Article published online:
14 September 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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