A case of Greenberg dysplasia [hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia (HEM)] is presented. Fetal ultrasonography at 20 weeks' gestation showed hydrops fetalis, severe micromelia, irregular hyperechogenic foci in the ribs and vertebral bodies, irregular hypo- and hyperechogenic areas and abnormal contour within the long bones, and flattened and "T"-shaped appearance of the vertebrae. Findings on postmortem histological and radiographic examination were consistent with Greenberg dysplasia.
Download full-text PDF |
Source |
---|
Front Genet
January 2023
Center of Prenatal Diagnosis, Huzhou Maternity & Child Healthcare Hospital, Huzhou, China.
The lamin B receptor () gene is located in chromosome 1q42.12 and encodes the lamin B receptor, an intracellular protein that binds to lamin B. mutations are associated with a broad phenotypic spectrum ranging from non-lethal to lethal skeletal dysplasias.
View Article and Find Full Text PDFAm J Med Genet A
January 2022
Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
The lamin-B receptor (LBR) encodes a dual-functioning inner nuclear membrane protein essential for cholesterol biosynthesis and chromatin organization. LBR pathogenic variants cause distinct phenotypes due to the dual function of LBR, including Pelger-Huët anomaly (PHA), PHA with mild skeletal anomalies (PHASK; MIM# 618019), LBR-related regressive type of spondylometaphyseal dysplasia (LBR-R-SMD), Greenberg dysplasia (MIM# 215140). We here report the first case with radiological manifestations of LBR-R-SMD in the fetal period, and milder skeletal findings in the similarly affected father.
View Article and Find Full Text PDFCommun Biol
April 2021
EMBL-Rome, Epigenetics and Neurobiology Unit, Monterotondo (RM), Italy.
Mutations in the gene encoding Lamin B receptor (LBR), a nuclear-membrane protein with sterol reductase activity, have been linked to rare human disorders. Phenotypes range from a benign blood disorder, such as Pelger-Huet anomaly (PHA), affecting the morphology and chromatin organization of white blood cells, to embryonic lethality as for Greenberg dysplasia (GRBGD). Existing PHA mouse models do not fully recapitulate the human phenotypes, hindering efforts to understand the molecular etiology of this disorder.
View Article and Find Full Text PDFBone
December 2020
CHU Sainte Justine Research Center, Université de Montréal, Montreal, QC, Canada; Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC, Canada. Electronic address:
Lamin B receptor, a member of the sterol reductase family, is an inner nuclear membrane protein which binds lamin B proteins and is involved in the organization of heterochromatin. Mutations in LBR have been associated with a variety of disorders, such as Pelger-Huët anomaly, a benign abnormality affecting neutrophils, and Greenberg Dysplasia, a lethal condition in the perinatal period. We identified a homozygous LBR missense mutation (NM_002296.
View Article and Find Full Text PDFMol Genet Genomic Med
June 2020
Victorian Clinical Genetics Services, The Royal Children's Hospital, Melbourne, VIC, Australia.
Background: Greenberg dysplasia is a rare, autosomal recessive, prenatal lethal bone dysplasia caused by biallelic pathogenic variants in the lamin B receptor (LBR) gene. Pathogenic variants in LBR are also associated with Pelger-Huët anomaly, an autosomal dominant benign abnormality of the nuclear shape and chromatin organization of blood granulocytes, and Pelger-Huët anomaly with variable skeletal anomalies, a mild, regressing to moderate-severe autosomal recessive condition. Conditions with abnormal sterol metabolism and different genetic basis have clinical and radiographic features similar to Greenberg dysplasia, for example X-linked dominant chondrodysplasia punctata, Conradi-Hünermann type, and CHILD syndrome, and other conditions with unknown genetic etiology display very similar features, for example, dappled diaphyseal dysplasia and Astley-Kendall dysplasia.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!