The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort

David Heikoop, Lauren Brick, David Chitayat, Samantha Colaiacovo, Lucie Dupuis, Hanna Faghfoury, Sharan Goobie, Roberto Mendoza, Melanie Napier, Margaret Nowaczyk, Rachel Oh, Josh Silver, Chitra Prasad, Maha Saleh

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)

Abstract

Osteopathia striata with cranial sclerosis (OSCS; OMIM# 300373) is a rare X-linked disorder caused by mutations of the AMER1 gene. OSCS is traditionally considered a skeletal dysplasia, characterized by cranial sclerosis and longitudinal striations in the long bone metaphyses. However, OSCS affects many body systems and varies significantly in phenotypic severity between individuals. This case series focuses on the phenotypic presentation and development of individuals with OSCS. We provide an account of 12 patients with OSCS, ranging from 5 months to 38 years of age. These patients were diagnosed with OSCS after genetic testing confirmed pathogenic mutations in AMER1. Patient consent was obtained for photos and participation. Data were collected regarding perinatal history, dysmorphic features, and review of systems. This case series documents common facial dysmorphology, as well as rare extraskeletal features of OSCS, including two patients with intestinal malrotation and two patients with pyloric stenosis. We share four apparently nonmosaic males with OSCS (one de novo and three maternal variants). We also provide a clinical update on a patient who was previously published by Chénier et al. (2012). American Journal of Medical Genetics Part A, 158, 2946–2952. More research is needed to investigate the links between genotype and phenotype and assess the long-term comorbidities and overall quality of life of individuals with OSCS.

Original languageEnglish
Pages (from-to)3793-3803
Number of pages11
JournalAmerican Journal of Medical Genetics, Part A
Volume185
Issue number12
DOIs
Publication statusPublished - Dec 2021

Bibliographical note

Funding Information:
We would like to thank the patients and their families who so willingly agreed to be a part of this case series.

Publisher Copyright:
© 2021 Wiley Periodicals LLC.

ASJC Scopus Subject Areas

  • Genetics
  • Genetics(clinical)

PubMed: MeSH publication types

  • Journal Article

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