GM25974
Fibroblast from Skin, Skin
Description:
MENTAL RETARDATION, X-LINKED 102; MRX102
DEAD/H BOX 3, X-LINKED; DDX3X
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Skin
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
European
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
6.23 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
DDX3X |
| Chromosomal Location |
Xp11.4 |
| Allelic Variant 1 |
p.Y462IfsX3; Mental retardation, X-linked 102 |
| Identified Mutation |
c.1383dupA (p.Tyr462IlefsX3) |
| Remarks |
Clinically affected; diagnosed at age 7 years by a geneticist; onset of symptoms at age 7 months; global developmental delay; metopic craniosynostosis;microcephaly; mildly dysmorphic facial features (narrow face, appearance similar to Pierre-Robin); ophthalmology findings: hypotelorism; right optic nerve head mild dysplasia,in both eyes: crowded optic nerves, esotropia; hyperopia, astigmatism, inferior oblique overreaction secondary to craniosynostosis, short thumbs; diffuse hypermobility in the upper and lower limbs; chest asymmetry; mild left thoracic vertex scoliosis; pelvic obliquity consistent with leg-length discrepancy (right leg is 61 cm, left leg is 59.5cm); hyperlordosis when standing; internal rotation of the hips with in-toeing; genu recurvatum; genu valgus R>L; pes planovalgus R>L; toes are upgoing; varus deformation; significant negative middle ear pressure bilaterally suggesting bilateral Eustachian tube dysfunction; Vineland Adaptive Behavioral Scale Assessment at age 6: significantly impaired skills in all areas,behavior similar to a child 1 to 19 months; communication similar to 1-4 mo old and limited to making non-word baby/babble sounds and understanding the word “no”;, daily living skills similar to 14 mo old (can remove some clothing, drink from straw); social skills similar to 3-13 months (looks for parents/familiar people, plays near other children, engages in parallel play, responds well to occasional routine changes); her motor skills are similar to a child 15 to 19 months of age (can walk up/down steps, turn book pages, do simple puzzles); Mullen Scales of Early Learning scores (Age 6): visual reception:20 months, fine motor: 20 months, receptive language 14 months, expressive language:9 months; exhibits many purposeless self-stimulatory movements; hyperactivity; sleep disturbances; brain MRI/MRS: thin posterior corpus callosum, small ventral pons, abnormal gyral pattern-cerebral cortex shows a deep collateral sulcus with R>L deep parahippocampal gyri and a R hippocampus slightly under rotated, slight under myelination for age, slight choline elevation in left centrum semiovale and slight deficit N-acetylaspartate in superior cerebellar vermis; electromyogram result: nerve conduction velocity that tended to be slower than expected for age; whole exome sequencing revealed a heterozygous mutation in exon 13 of the DDX3X gene c.1383dupA (p.Tyr462IlefsX3) - this variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay; assistive devices: ankle foot orthotics; management: speech language therapy; unaffected parents are: mother GM25975 (fibroblast) and father GM25976 (fibroblast); refer to Individual 22 in publication by Blok et al (PMID: 26235985). |
| Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A, DDD Study A, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T, Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling American journal of human genetics97:343-52 2015 |
| PubMed ID: 26235985 |
| Cumulative PDL at Freeze |
6.23 |
| Passage Frozen |
2 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|