Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

doi:10.1016/j.ajhg.2010.11.004

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Article

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

American journal of human genetics - 10 Dec 2010

McLarren Keith W, Severson Tesa M, du Souich Christèle, Stockton David W, Kratz Lisa E, Cunningham David, Hendson Glenda, Morin Ryan D, Wu Diane, Paul Jessica E, An Jianghong, Nelson Tanya N, Chou Athena, DeBarber Andrea E, Merkens Louise S, Michaud Jacques L, Waters Paula J, Yin Jingyi, McGillivray Barbara, Demos Michelle, Rouleau Guy A, Grzeschik Karl-Heinz, Smith Raffaella, Tarpey Patrick S, Shears Debbie, Schwartz Charles E, Gecz Jozef, Stratton Michael R, Arbour Laura, Hurlburt Jane, Van Allen Margot I, Herman Gail E, Zhao Yongjun, Moore Richard, Kelley Richard I, Jones Steven J M, Steiner Robert D, Raymond F Lucy, Marra Marco A, Boerkoel Cornelius F

Abstract excerpt

CK syndrome (CKS) is an X-linked recessive intellectual disability syndrome characterized by dysmorphism, cortical brain malformations, and an asthenic build. Through an X chromosome single-nucleotide variant scan in the first reported family, we identified linkage to a 5 Mb region on Xq28. Sequencing of this region detected a segregating 3 bp deletion (c.696_698del [p.Lys232del]) in exon 7 of NAD(P) dependent...

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Identifiers

PMID: 21129721
DOI: 10.1016/j.ajhg.2010.11.004
PMCID: PMC2997364

Genes

NSDHL

Variants

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