Description:
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR
ZC4H2 ASSOCIATED RARE DISORDERS
ZINC FINGER C4H2 DOMAIN-CONTAINING PROTEIN; ZC4H2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Protocols |
Protocol PDF |
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Biopsy Source
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Blood
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Sendai)
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Sample Source
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iPSC from Blood
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Dutch, Spanish
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Country of Origin
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U.A.E.
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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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ISCN
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46,XX[19]
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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 |
13 |
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| Induced Pluripotent Stem Cell |
The parental cell line was recovered reprogrammed to an induced pluripotent stem cell line and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
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| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
5 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
2 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
U.A.E. |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SNP ARRAY-CGH REVEALED A DE NOVO 244KB MICRODELETION (ARR[HG19]XQ11.2(64,170,839-64,414573)X1) ON THE 5' END OF ZC4H2 (NM_018684.3) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
2 MONTHS |
| In Utero History Information |
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Decreased fetal movement
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| Birth History Information |
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| Additional Information: |
CONTRACTURES IN ALMOST ALL JOINTS INCLUDING FINGERS (WITH EXCEPTION OF ELBOWS); HYPEREXTENSION IN BOTH KNEES; NO VOLUNTARY MOVEMENT OF LOWER BODY |
| Dysmorphic Features |
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| Additional Information: |
FEET AND HAND MALFORMATIONS; OBLIQUE TALUS AND INVERTED PES EQUINOVARUS; LEFT HIP CONGENITALLY DISLOCATED; RIGHT HIP DISLOCATED COXA VALGA |
| Neurological Symptoms |
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| Additional Information: |
TETHERED CORD |
| Optical and Audiological Symptoms |
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| Additional Information: |
HYPEROPIA |
| Musculoskeletal Symptoms |
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| Additional Information: |
ARTHROGRYPOSIS MULTIPLEX CONGENITA; GENERAL MUSCLE ATROPHY; TRUNK HYPOTONIA; VARIABLE MUSCLE TONE; HISTORY OF ACCIDENTAL FRACTURES (PERINATAL FRACTURE OF LEFT KNEE, LATROGENIC FACTURE OF DISTAL LEFT AND RIGHT FEMURS, AND STRESS FRACTURE OF DISTAL LEFT FEMUR); DEXA SCAN REVEALED LOW BONE MINERAL DENSITY IN LUMBAR SPINE AND TOTAL BODY; INTERMITTENT CLONUS IN BOTH FEET |
| Developmental Milestones |
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Abnormal weight for age
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| Walking Without Assistance: |
Not achieved and not maintained |
| Running: |
Not achieved and not maintained |
| Additional Information: |
MOTOR PLANNING IMPAIRMENT; NON-MOBILITY; SPEECH APRAXIA; OVERWEIGHT, ALTHOUGH A HEALTHY EATER |
| Gastrointestinal Symptoms |
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| Additional Information: |
DIFFICULTIES SWALLOWING |
| Genitourinary Symptoms |
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| Additional Information: |
DETRUSOR OVERACTIVITY (BLADDER) |
| Respiratory and Cardiovascular Symptoms |
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| Additional Information: |
REPEATED PNEUMONIA EPISODES UNTIL 13 MONTHS |
| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI AT 16 MONTHS REVEALED MUSCLE ATROPHY IN UPPER AND LOWER LIMBS, CHEST AND ABDOMEN, WITH INTERMUSCULAR FAT PLANES AND SMALL SIZE OF MUSCLE BUNDLES, AND BRAIN HYPOMYELINATION; MRI AT 4.5 YEARS REVEALED POSSIBLE HYPOMYELINATION, ENLARGED VENTRICLES, LOW-LYING CONUS, AND FATTY FILUM TERMINALE |
| Metabolic, Hematologic, and Endocrinologic Testing: |
ENDOCRINOLOGY PANEL REVEALED THE FOLLOWING FINDINGS: SIGNIFICANTLY ADVANCED BONE AGE WITH LOW BONE HEALTH INDEX INDICATING OSTEOPENIA; PARATHYROID HORMONE HIGH INDICATING SKELETAL DEMINERALIZATION; PREMATURE ADRENARCHE; LOW THREONINE AND HYDROXYPROLINE; PROLACTIN ELEVATION |
| Treatments and Assistive Devices |
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Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Service animal
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| Surgeries |
HIP REPOSITIONING; HIP RECONSTRUCTION; UNTETHERING OF SPINAL CORD; PROGRESSIVE LIMB CASTING TO INCREASE KNEES' RANGE OF MOTION; REVERSED PONSETI TO CORRECT FEET DEFECTS |
| Additional Testing: |
BRACES; STANDER; WALKER; PSYCHOLOGICAL THERAPY |
| Medications |
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OXYBUTYNIN; PROPHYLACTIC AZITHROMYCIN |
| Family History |
| Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM, Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita Human mutation40:2270-2285 2019 |
| PubMed ID: 31206972 |
| Passage Frozen |
13 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none |
| Substrate |
Matrigel |
| Supplement |
- |
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