LETTER TO JMG

Longevity in Schimke immuno-osseous dysplasia

S Lou¹, P Lamfers², N McGuire², C F Boerkoel¹

¹ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
² Mercy Pediatrics and Adolescent Clinic, Clear Lake, Iowa, USA

Correspondence to:
Correspondence to:
Dr C F Boerkoel, Department of Molecular and Human Genetics, One Baylor Plaza, Room T634, Houston, TX 77030, USA;
boerkoel@bcm.tmc.edu

Keywords: SNF2 protein; SMARCAL1; spondyloepiphyseal dysplasia; T cell immunodeficiency

Abbreviations: ATR-X, thalassaemia/mental retardation, X linked; CNS, central nervous system; ERCC6, excision repair cross complementing rodent repair deficiency, complementation group 6; PCR, polymerase chain reaction; SIOD, Schimke immuno-osseous dysplasia; SMARCAL1, SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1; SMARCB1, swi/snf related matrix associated actin dependent regulator of chromatin subfamily b member 1; SNF2, sucrose non-fermenting yeast homologue 2

The first 150 words of the full text of this article appear below.

Schimke immuno-osseous dysplasia (SIOD) is characterised by autosomal recessive inheritance, spondyloepiphyseal dysplasia causing growth retardation, defective cellular immunity, progressive nephropathy leading to renal failure, hyperpigmented macules, and dysmorphic facial features.^1–16 Half of SIOD patients also have hypothyroidism, half episodic cerebral ischaemia, and a tenth bone marrow failure.³

SIOD is caused by mutations in SMARCAL1 (SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1).¹⁷ SNF2 related proteins participate in the DNA nucleosome restructuring which commonly occurs during gene regulation and DNA replication, recombination, methylation, and repair.^18,19

Generally SIOD patients surviving past 15-16 years have milder and fewer symptoms than patients dying at younger ages. These older patients do not suffer from hypothyroidism, recurrent infections, bone marrow failure, or central nervous system symptoms such as migraine headaches, transient ischaemic attacks, or strokes but do have spondyloepiphyseal dysplasia, renal disease, and T cell deficiency.³ These older patients have had two . . . [Full text of this article]

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Elizondo, L I, Cho, K S, Zhang, W, Yan, J, Huang, C, Huang, Y, Choi, K, Sloan, E A, Deguchi, K, Lou, S, Baradaran-Heravi, A, Takashima, H, Lucke, T, Quiocho, F A, Boerkoel, C F (2009). Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. J. Med. Genet. 46: 49-59 [Abstract] [Full Text]  
• Marietta Clewing, J, Antalfy, B. C, Lucke, T., Najafian, B., Marwedel, K. M, Hori, A., Powel, R. M, Safo Do, A F, Najera, L., SantaCruz, K., John Hicks, M, Armstrong, D. L, Boerkoel, C. F (2007). Schimke immuno-osseous dysplasia: a clinicopathological correlation. J. Med. Genet. 44: 122-130 [Abstract] [Full Text]