Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

Kuchinskaya, EkaterinaLinköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten (author)

Funding Agencies|Stockholm County Council; Karolinska Institutet; Kronprinsessan Lovisas; Axel Tiellmans Minnesfond Foundation; Samariten Foundation; Sallskapet Barnavard Foundation; Promobilia Foundations; Genome Technology to Business Translation Program of the National Research Foundation (NRF) - Ministry of Science, ICT & Future Planning of the government of Republic of Korea [NRF-2014M3C9A2064684]
Ischiospinal dysostosis (ISD) is a polytopic dysostosis characterized by ischial hypoplasia, multiple segmental anomalies of the cervicothoracic spine, hypoplasia of the lumbrosacral spine and occasionally associated with nephroblastomatosis. ISD is similar to, but milder than the lethal/semilethal condition termed diaphanospondylodysostosis (DSD), which is associated with homozygous or compound heterozygous mutations of bone morphogenetic protein-binding endothelial regulator protein (BMPER) gene. Here we report for the first time biallelic BMPER mutations in two patients with ISD, neither of whom had renal abnormalities. Our data supports and further extends the phenotypic variability of BMPER-related skeletal disorders.

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine hsv//eng
Ischiospinal dysostosis; Diaphanospondylodysostosis; BMPER; Vertebral anomaly; Ischial hypoplasia

Grigelioniene, GiedreKarolinska Institutet,Karolinska Institute, Sweden; Karolinska University Hospital, Sweden (author)
Hammarsjo, AnnaKarolinska Institutet,Karolinska Institute, Sweden; Karolinska University Hospital, Sweden (author)
Lee, Hye-RanSeoul National University, South Korea (author)
Högberg, LottaLinköpings universitet,Avdelningen för kliniska vetenskaper,Medicinska fakulteten,Region Östergötland, Barn- och ungdomskliniken i Norrköping(Swepub:liu)lotho28 (author)
Grigelionis, GintautasKarolinska Institute, Sweden (author)
Kim, Ok-HwaWoorisoa Childrens Hospital, South Korea (author)
Nishimura, GenTokyo Metropolitan Childrens Medical Centre, Japan (author)
Cho, Tae-JoonDivision of Pediatric Orthopaedics, Seoul National University Children’s Hospital, Seoul, Republic of Korea (author)
Linköpings universitetAvdelningen för cellbiologi (creator_code:org_t)

By the author/editor: Kuchinskaya, Eka ...; Grigelioniene, G ...; Hammarsjo, Anna; Lee, Hye-Ran; Högberg, Lotta; Grigelionis, Gin ...; show more...; Kim, Ok-Hwa; Nishimura, Gen; Cho, Tae-Joon; show less...

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