Description:
LANGER MESOMELIC DYSPLASIA
SHORT STATURE HOMEOBOX; SHOX
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
SHOX |
| Chromosomal Location |
Xpter-p22.32 |
| Allelic Variant 1 |
312865.0009; LANGER MESOMELIC DYSPLASIA |
| Identified Mutation |
1-BP INS, 723C; In a man with Langer mesomelic dysplasia (249700), Zinn et al. (2002) found a hemizygous or homozygous insertion of a C (723insC) in a stretch of 6 C's in exon 6a of the SHOX gene. The insertion causes a frameshift that replaces the C terminus with 50 novel amino acids, deleting a putative SH3 binding site. Zinn et al. (2002) concluded that the SHOXa isoform is essential for normal skeletal development. |
| Remarks |
Clinically affected; anthropometric measurements at age 65.3 years: height = 127.7 cm, height SD score = -7.2, upper to lower segment ratio = 1.8, upper to lower segment z-score = 30.3, arm span = 106.2 cm, arm span z-score = -9.2, right tibial length z-score = -8.0, right radial length z-score = -5.3, fourth metacarpal z-score = 0.9; high arched palate; normal fingernails; no scoliosis; mild increased carrying angle; severe mesomelia; marked ulnar hypoplasia; hypoplastic fibulae; severe Madelung wrist deformity; fused epiphyses; subject's parents reportedly had short stature (both 157 cm); sister affected with Leri-Weill dyschondrosteosis; donor subject is hemizygous or homozygous for a 1-bp insertion of a C, ins723C, in exon 6a of the SHOX gene resulting in a frameshift that replaces the carboxy terminus with 50 novel amino acids; subject has no wildtype SHOX exon 6a. Exon duplications or deletions were not ruled out, apart from the deletions detected by FISH with a SHOX cosmid. |
| Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL, Complete SHOX deficiency causes Langer mesomelic dysplasia. Am J Med Genet110(2):158-63 2002 |
| PubMed ID: 12116254 |
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