Lethal/severe osteogenesis imperfecta in a large family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

Fleur S. Van Dijk; Peter G.J. Nikkels; Nicolette S. Den Hollander; Isabel M. Nesbitt; Rick R. Van Rijn; Jan M. Cobben; Gerard Pals

doi:10.2350/10-03-0806-CR.1

Lethal/severe osteogenesis imperfecta in a large family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

Fleur S. Van Dijk
, Peter G.J. Nikkels
, Nicolette S. Den Hollander
, Isabel M. Nesbitt
, Rick R. Van Rijn
, Jan M. Cobben
, Gerard Pals

Research output: Contribution to journal › Article › peer-review

22 Citations (Scopus)

Abstract

We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may indicate that the histology of LEPRE1-associated OI is indistinguishable from COL1A1/2-, CRTAP-, and PPIB-related OI.

Original language	English
Pages (from-to)	228-234
Number of pages	7
Journal	Pediatric and Developmental Pathology
Volume	14
Issue number	3
DOIs	https://doi.org/10.2350/10-03-0806-CR.1
Publication status	Published - May 2011
Externally published	Yes

Keywords

CRTAP
Collagen type I
Histology
LEPRE1
Osteogenesis imperfecta
PPIB

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10.2350/10-03-0806-CR.1

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title = "Lethal/severe osteogenesis imperfecta in a large family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings",

abstract = "We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may indicate that the histology of LEPRE1-associated OI is indistinguishable from COL1A1/2-, CRTAP-, and PPIB-related OI.",

keywords = "CRTAP, Collagen type I, Histology, LEPRE1, Osteogenesis imperfecta, PPIB",

author = "\{Van Dijk\}, \{Fleur S.\} and Nikkels, \{Peter G.J.\} and \{Den Hollander\}, \{Nicolette S.\} and Nesbitt, \{Isabel M.\} and \{Van Rijn\}, \{Rick R.\} and Cobben, \{Jan M.\} and Gerard Pals",

year = "2011",

month = may,

doi = "10.2350/10-03-0806-CR.1",

language = "English",

volume = "14",

pages = "228--234",

journal = "Pediatric and Developmental Pathology",

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T2 - A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

AU - Van Dijk, Fleur S.

AU - Nikkels, Peter G.J.

AU - Den Hollander, Nicolette S.

AU - Nesbitt, Isabel M.

AU - Van Rijn, Rick R.

AU - Cobben, Jan M.

AU - Pals, Gerard

PY - 2011/5

Y1 - 2011/5

N2 - We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may indicate that the histology of LEPRE1-associated OI is indistinguishable from COL1A1/2-, CRTAP-, and PPIB-related OI.

AB - We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may indicate that the histology of LEPRE1-associated OI is indistinguishable from COL1A1/2-, CRTAP-, and PPIB-related OI.

KW - CRTAP

KW - Collagen type I

KW - Histology

KW - LEPRE1

KW - Osteogenesis imperfecta

KW - PPIB

UR - https://www.scopus.com/pages/publications/80054025010

U2 - 10.2350/10-03-0806-CR.1

DO - 10.2350/10-03-0806-CR.1

M3 - Article

C2 - 20946018

AN - SCOPUS:80054025010

SN - 1093-5266

VL - 14

SP - 228

EP - 234

JO - Pediatric and Developmental Pathology

JF - Pediatric and Developmental Pathology

IS - 3

ER -

Lethal/severe osteogenesis imperfecta in a large family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

Abstract

Keywords

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