TY - JOUR
T1 - The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis
T2 - The first Canadian cohort
AU - Heikoop, David
AU - Brick, Lauren
AU - Chitayat, David
AU - Colaiacovo, Samantha
AU - Dupuis, Lucie
AU - Faghfoury, Hanna
AU - Goobie, Sharan
AU - Mendoza, Roberto
AU - Napier, Melanie
AU - Nowaczyk, Margaret
AU - Oh, Rachel
AU - Silver, Josh
AU - Prasad, Chitra
AU - Saleh, Maha
N1 - 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.
PY - 2021/12
Y1 - 2021/12
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.a.62452
DO - 10.1002/ajmg.a.62452
M3 - Article
C2 - 34414661
AN - SCOPUS:85113163455
SN - 1552-4825
VL - 185
SP - 3793
EP - 3803
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 12
ER -