Description:
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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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 |
|
Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Country of Origin
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USA
|
|
Family Member
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1
|
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Family History
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N
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Relation to Proband
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proband
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|
Confirmation
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Clinical summary/Case history
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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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|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
FBN1 |
| Chromosomal Location |
15q21.1 |
| Allelic Variant 1 |
; SHPRINTZEN-GOLDBERG SYNDROME |
| Identified Mutation |
SER1481GLY |
| Remarks |
Clinically affected; product of uncomplicated pregnancy; obstructive apnea and failure to thrive requiring tracheostomy and gastrostomy; brachyturricephaly, ocular proptosis with downslanting palpebral fissures and hypertelorism, low-set posteriorly rotated pinna with flattened helices, highly palate, pectus excavatum, and arachnodactyly of fingers and toes and bilateral simian creases; craniosynostosis; mental retardation; camptodactyly; micrognathia; 3D CT scan showed partial fusion of the coronal, lambdoidal, and sagittal sutures and thickening of the skull with widened diploic spaces and ventriculomegaly; Chiari decompression at age 5, suboccipital craniectomy and C1 laminectomy for a C1 subluxation; several orthopedic procedures for dislocation of the right hip and flexion contractures of the digits; non-verbal and wheel-chair bound; scoliosis; normal male karyotype; sequence analysis of all FBN1, TGFBR1, and TGFBR2 coding exons and exon boundaries did not reveal any disease-causing variations; a variant was found in FBN1 exon 35 (c.4441A>G, Ser1481Gly), of which the clinical significance is not known; see Patient 1 in publication by Shanske, et al (PMID: 22639450); affected half-sister is GM18180. |
| Shanske AL, Goodrich JT, Ala-Kokko L, Baker S, Frederick B, Levy B, Germline mosacism in Shprintzen-Goldberg syndrome American journal of medical genetics Part A158A:1574-8 2011 |
| PubMed ID: 22639450 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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