Abstract
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Highlights
To the Editor: In a recent article in the American Journal of Human Genetics, biallelic pathogenic KDELR2 variants were described as a novel cause of autosomal recessive (AR) osteogenesis imperfecta (OI) (MIM: #166200) in four families with six affected individuals
The KDELR family of proteins is important in interorganelle communication by regulating protein trafficking between the Golgi apparatus and the endoplasmic reticulum
The data presented here support the role of KDELR2 in AR OI and expand the phenotypic spectrum of recessive KDELR2related AR OI first described by van Dijk et al (2020) to include neurodevelopmental disorders such as motor and speech delay, as well as blue sclerae, dentinogenesis imperfecta, and hypotonia
Summary
Stephanie Efthymiou1 | Isabella Herman2,3,4 | Fatima Rahman5 | Najwa Anwar5 | Reza Maroofian1 | Janice Yip1 | Tadahiro Mitani3 | Daniel G. We read the authors' work with great enthusiasm and would like to share clinical and genetic information from two additional unrelated consanguineous families with three affected children with OI with additional phenotypic features, expanding the phenotypic spectrum of KDELR2-related OI. 1 consists of two affected children, a boy and a girl (P1, P2), born to consanguineous (first cousins) parents of Pakistani origin. Both patients have marked motor delay with inability to walk independently at 6 years and 2 years 8 months of age, respectively. The younger sister has not had any documented fracture to date at 2 years and 8 months of age She is not independently ambulatory but can take few steps with great support.
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