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 |
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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| Remarks |
Clinically affected; anthropometric measurements at age 8 months: height = 57.5 cm, weight = 5.88 kg, head circumference = 45.2 cm; birth length 17 3/4 inches; developmentally normal at 8 months of age; severe shortening of forearms with ulnar deviation; decreased extension of the third and fourth fingers of each hand; mild tibial bowing; unusual foreshortening of the forearms and lower legs; mild micrognathia; elevated 17-hydroxyprogesterone on newborn screen; diagnosis of non-classic 21-hydroxylase deficiency made in newborn period; no ambiguous genitalia; donor subject is homozygous for a deletion of the SHOX allele. Exon duplications or deletions were not ruled out, apart from the deletions detected by FISH with a SHOX cosmid. |
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