Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Cornelius F. Boerkoel; Hiroshi Takashima; Joy John; Jiong Yan; Pawel Stankiewicz; Lisa Rosenbarker; Jean Luc André; Radovan Bogdanovic; Antoine Burguet; Sandra Cockfield; Isabel Cordeiro; Stefan Fründ; Friederike Illies; Mark Joseph; Ilkka Kaitila; Giuliana Lama; Chantal Loirat; D. Ross McLeod; David V. Milford; Elizabeth M. Petty; Francisco Rodrigo; Jorge M. Saraiva; Beate Schmidt; Graham C. Smith; Jürgen Spranger; Anja Stein; Hannelore Thiele; Jane Tizard; Rosanna Weksberg; James R. Lupski; David W. Stockton

doi:10.1038/ng821

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Cornelius F. Boerkoel, Hiroshi Takashima, Joy John, Jiong Yan, Pawel Stankiewicz, Lisa Rosenbarker, Jean Luc André, Radovan Bogdanovic, Antoine Burguet, Sandra Cockfield, Isabel Cordeiro, Stefan Fründ, Friederike Illies, Mark Joseph, Ilkka Kaitila, Giuliana Lama, Chantal Loirat, D. Ross McLeod, David V. Milford, Elizabeth M. PettyFrancisco Rodrigo, Jorge M. Saraiva, Beate Schmidt, Graham C. Smith, Jürgen Spranger, Anja Stein, Hannelore Thiele, Jane Tizard, Rosanna Weksberg, James R. Lupski, David W. Stockton

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

274 Scopus citations

Abstract

Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency^1-3. Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), are responsible for SIOD. Through analysis of data from persons with SIOD in 26 unrelated families, we observed that affected individuals from 13 of 23 families with severe disease had two alleles with nonsense, frameshift or splicing mutations, whereas affected individuals from 3 of 3 families with milder disease had a missense mutation on each allele. These observations indicate that some missense mutations allow retention of partial SMAR- CAL1 function and thus cause milder disease.

Original language	English
Pages (from-to)	215-220
Number of pages	6
Journal	Nature Genetics
Volume	30
Issue number	2
DOIs	https://doi.org/10.1038/ng821
State	Published - Feb 2002

Access to Document

10.1038/ng821

Cite this

Boerkoel, C. F., Takashima, H., John, J., Yan, J., Stankiewicz, P., Rosenbarker, L., André, J. L., Bogdanovic, R., Burguet, A., Cockfield, S., Cordeiro, I., Fründ, S., Illies, F., Joseph, M., Kaitila, I., Lama, G., Loirat, C., McLeod, D. R., Milford, D. V., ... Stockton, D. W. (2002). Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nature Genetics, 30(2), 215-220. https://doi.org/10.1038/ng821

@article{74fa379c930346ff80f09f77fa9fadc1,

title = "Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia",

abstract = "Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency1-3. Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), are responsible for SIOD. Through analysis of data from persons with SIOD in 26 unrelated families, we observed that affected individuals from 13 of 23 families with severe disease had two alleles with nonsense, frameshift or splicing mutations, whereas affected individuals from 3 of 3 families with milder disease had a missense mutation on each allele. These observations indicate that some missense mutations allow retention of partial SMAR- CAL1 function and thus cause milder disease.",

author = "Boerkoel, {Cornelius F.} and Hiroshi Takashima and Joy John and Jiong Yan and Pawel Stankiewicz and Lisa Rosenbarker and Andr{\'e}, {Jean Luc} and Radovan Bogdanovic and Antoine Burguet and Sandra Cockfield and Isabel Cordeiro and Stefan Fr{\"u}nd and Friederike Illies and Mark Joseph and Ilkka Kaitila and Giuliana Lama and Chantal Loirat and McLeod, {D. Ross} and Milford, {David V.} and Petty, {Elizabeth M.} and Francisco Rodrigo and Saraiva, {Jorge M.} and Beate Schmidt and Smith, {Graham C.} and J{\"u}rgen Spranger and Anja Stein and Hannelore Thiele and Jane Tizard and Rosanna Weksberg and Lupski, {James R.} and Stockton, {David W.}",

note = "Funding Information: We thank the families described for their cooperation and H. Bellen for critical review of this manuscript. H.T. is a recipient of a postdoctoral fellowship from the Charcot–Marie–Tooth Association. This study was supported in part by the Kleberg Foundation and by grants from the US National Institute of Diabetes, Digestive, and Kidney Diseases (to C.F.B.), from the US National Institute of Eye Diseases (to D.W.S.) and from the US National Institute of Neurological Disorders and Stroke (to J.R.L.).",

year = "2002",

month = feb,

doi = "10.1038/ng821",

language = "English",

volume = "30",

pages = "215--220",

journal = "Nature Genetics",

issn = "1061-4036",

number = "2",

}

Boerkoel, CF, Takashima, H, John, J, Yan, J, Stankiewicz, P, Rosenbarker, L, André, JL, Bogdanovic, R, Burguet, A, Cockfield, S, Cordeiro, I, Fründ, S, Illies, F, Joseph, M, Kaitila, I, Lama, G, Loirat, C, McLeod, DR, Milford, DV, Petty, EM, Rodrigo, F, Saraiva, JM, Schmidt, B, Smith, GC, Spranger, J, Stein, A, Thiele, H, Tizard, J, Weksberg, R, Lupski, JR & Stockton, DW 2002, 'Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia', Nature Genetics, vol. 30, no. 2, pp. 215-220. https://doi.org/10.1038/ng821

TY - JOUR

T1 - Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

AU - Boerkoel, Cornelius F.

AU - Takashima, Hiroshi

AU - John, Joy

AU - Yan, Jiong

AU - Stankiewicz, Pawel

AU - Rosenbarker, Lisa

AU - André, Jean Luc

AU - Bogdanovic, Radovan

AU - Burguet, Antoine

AU - Cockfield, Sandra

AU - Cordeiro, Isabel

AU - Fründ, Stefan

AU - Illies, Friederike

AU - Joseph, Mark

AU - Kaitila, Ilkka

AU - Lama, Giuliana

AU - Loirat, Chantal

AU - McLeod, D. Ross

AU - Milford, David V.

AU - Petty, Elizabeth M.

AU - Rodrigo, Francisco

AU - Saraiva, Jorge M.

AU - Schmidt, Beate

AU - Smith, Graham C.

AU - Spranger, Jürgen

AU - Stein, Anja

AU - Thiele, Hannelore

AU - Tizard, Jane

AU - Weksberg, Rosanna

AU - Lupski, James R.

AU - Stockton, David W.

N1 - Funding Information: We thank the families described for their cooperation and H. Bellen for critical review of this manuscript. H.T. is a recipient of a postdoctoral fellowship from the Charcot–Marie–Tooth Association. This study was supported in part by the Kleberg Foundation and by grants from the US National Institute of Diabetes, Digestive, and Kidney Diseases (to C.F.B.), from the US National Institute of Eye Diseases (to D.W.S.) and from the US National Institute of Neurological Disorders and Stroke (to J.R.L.).

PY - 2002/2

Y1 - 2002/2

N2 - Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency1-3. Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), are responsible for SIOD. Through analysis of data from persons with SIOD in 26 unrelated families, we observed that affected individuals from 13 of 23 families with severe disease had two alleles with nonsense, frameshift or splicing mutations, whereas affected individuals from 3 of 3 families with milder disease had a missense mutation on each allele. These observations indicate that some missense mutations allow retention of partial SMAR- CAL1 function and thus cause milder disease.

AB - Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency1-3. Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), are responsible for SIOD. Through analysis of data from persons with SIOD in 26 unrelated families, we observed that affected individuals from 13 of 23 families with severe disease had two alleles with nonsense, frameshift or splicing mutations, whereas affected individuals from 3 of 3 families with milder disease had a missense mutation on each allele. These observations indicate that some missense mutations allow retention of partial SMAR- CAL1 function and thus cause milder disease.

UR - http://www.scopus.com/inward/record.url?scp=18544381908&partnerID=8YFLogxK

U2 - 10.1038/ng821

DO - 10.1038/ng821

M3 - Article

C2 - 11799392

AN - SCOPUS:18544381908

SN - 1061-4036

VL - 30

SP - 215

EP - 220

JO - Nature Genetics

JF - Nature Genetics

IS - 2

ER -

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Abstract

Access to Document

Other files and links

Fingerprint

Cite this