GM20734
LCL from B-Lymphocyte
Description:
SMITH-MAGENIS SYNDROME; SMS
RETINOIC ACID-INDUCED GENE 1; RAI1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
| Class |
Disorders of the Nervous System |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Possibly Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
ISCN
|
46,XX.ish 17p13.3(LISIX2),17p11.2(FLIX2)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
RAI1 |
| Chromosomal Location |
17p11.2 |
| Allelic Variant 1 |
607642.0007; SMITH-MAGENIS SYNDROME |
| Identified Mutation |
253del19 |
| Remarks |
Clinically affected; born at 42 weeks gestation via cesarean section; birth weight = 4.3 kg; hypotonia, upslanting palpebral fissures and midface hypoplasia noted in neonatal period; significant delays with motor skills and language development; at age 18 months, long tantrums, attention seeking, and repetitive behaviors began; enuresis until age 12 years; frequent ear infections in childhood led to removal of tonsils and adenoids; short fingers and hands; clino-brachydactyly of fifth fingers bilaterally; at age 15 years, developmental age was 8-10 years; IQ = 67 on Wechsler scale at age 15 years; waddling gait; loud and hoarse voice; decreased sensitivity to pain; low-set ears; prognathism; brachycephaly; tented upper lip; broad, square face; no synophrys; myopia but no strabismus or iris abnormalities; no structural cardiovascular or renal anomalies; significant sleep disturbance including frequent napping and multiple night awakenings; self hugging/hand wringing; skin picking; onychotillomania; polyembolokoilamania; no hand biting or head banging; overeating and problems with weight management; at age 19 years weight >97th percentile and height about 75th percentile; at age 19 years, bipolar episodes exhibited; normal karyotype; negative Fragile X studies; normal FISH for del(22)(q11.2); normal FISH for del(17)(p11.2); donor subject has a de novo deletion of 19 base pairs starting at nucleotide 253 in exon 3 of the RAI1 gene [253del19] that causes a frameshift mutation leading to misincorporation of 60 amino acids followed by a stop codon. |
| Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH, RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet42(11):820-8 2005 |
| PubMed ID: 15788730 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Supplement |
- |
|