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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Transformant
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Epstein-Barr Virus
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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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| Gene |
SHOX |
| Chromosomal Location |
Xpter-p22.32 |
| Allelic Variant 1 |
312865.0003; LANGER MESOMELIC DYSPLASIA |
| Identified Mutation |
DEL; In a fetus with Langer mesomelic dysplasia (249700), Belin et al. (1998) confirmed deletion of both SHOX alleles by fluorescence in situ hybridization. The mother, who had dyschondrosteosis (127300), was found to be heterozygous at this locus. Belin et al. (1998) showed that Langer mesomelic dysplasia results from homozygous mutations at the SHOX locus. Shears et al. (1998) likewise demonstrated a role for homozygous deletion involving the SHOX gene in the etiology of Langer dysplasia.
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| Gene |
SHOX |
| Chromosomal Location |
Xpter-p22.32 |
| Allelic Variant 2 |
130X; LANGER MESOMELIC DYSPLASIA |
| Identified Mutation |
ins350AG |
| Remarks |
Clinically affected; anthropometric measurements at age 7.3 years: height = 93.5 cm, height SD score = -5.5, upper to lower segment ratio = 1.8, upper to lower segment z-score = 14.8, arm span = 72.0 cm, arm span z-score = -8.5, right tibial length z-score = -2.5, right radial length z-score = -6.5, fourth metacarpal z-score = -0.9; high arched palate; normal fingernails; no scoliosis; marked increased carrying angle; severe mesomelia; marked ulnar hypoplasia; hypoplastic fibulae; early radiographic signs of Madelung wrist deformity were present; bone age was 6.8 years at chronological age of 7.3 years; donor subject is a compound heterozygote: one allele has a complete deletion of one SHOX gene and a second allele has a 2-bp insertion, ins350AG, in exon 3 of the SHOX gene causing a frameshift that truncates the predicted SHOX protein after the first 13 amino acids of the homeodomain [130X]; subject's mother had Leri-Weill dyschondrosteosis and was heterozygous for the SHOX gene deletion; subject's father had borderline short stature (height -1.6 SD) and short legs and was heterozygous for the ins350AG mutation; clinically normal 6 month old sister had neither the SHOX deletion nor the ins350AG mutation. |
| 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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