Demographic Data |
Relation to Proband |
proband |
Age at Sampling |
21 YR |
Sex |
Male |
Age of Onset(If not a control) |
10 YR |
Age at Diagnosis(If not a control) |
18 YR |
Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
Racial Category |
White |
Country |
USA |
|
Data Elements |
Clinical Element Type: General NIGMS Catalog Remarks |
(Baseline) |
Mutation Information |
Gene, variant, consequence, and exon number: |
WHOLE GENOME AND NEXT GENERATION SEQUENCING DETECTED A HETEROZYGOUS AUTOSOMAL DOMINANT LIKELY PATHOGENIC VARIANT IN THE PRPF31 GENE (NM_015629.3): C.1165C>T (P.GLN389*, NP_056444.3); A LIKELY PATHOGENIC VARIANT IN MERTK (NM_006343.2) WAS ALSO DETECTED: C.773C>A (P.ALA258GLU, NP_CC6334.2), RS352762; REFERENCE GENOME GRCH38 |
Zygosity: |
Heterozygous Notes: A VARIANT IN PRPF31 HAS BEEN IDENTIFIED IN AN INDIVIDUAL WITH RETINITIS PIGMENTOSA (PMID: 30337596); INDIVIDUALS WITH PATHOGENIC VARIANTS IN RIMS1 HAVE AUTOSOMAL DOMINANT CONE-ROD DYSTROPHY 7 |
Other variants: |
OTHER HETEROZYGOUS VARIANTS INCLUDE AN AUTOSOMAL DOMINANT VARIANT OF UNCERTAIN SIGNIFICANCE (VOUS) IN RIMS1 (NM_014989.5): C.1088G>T (P.ARG363LEU, NP_055804.2), RS371189625; A LIKELY PATHOGENIC VARIANT IN ALMS (NM_015129.4): C.6299C>G (P.SER2100TRP, NP_056935.4); A VARIANT OF UNKNOWN SIGNIFICANCE IN ALMS (NM_015120.4): C.10382-52A>G; A LIKELY BENIGN VARIANT IN RP1 (NM_006269.2): C.4250T>C (P.LEU1417PRO, NP_006260), RS139294220; A LIKELY PATHOGENIC FRAMESHIFT VARIANT IN TMEM67 (NM_153704.6): C.579_580DELAG (P.GLY195ILEFSTER13); A VARIANT IN WFS1 (NM_001545853.1): C.1071G>A (P.MET357ILE, NP_001139325.1) |
Age of Symptom Onset and Age at Diagnosis |
Age of Symptom Onset: |
18 YEARS |
Age at Diagnosis: |
10 YEARS; DIAGNOSED BY AN EYE RETINA SPECIALIST |
In Utero History Information |
|
Abnormal fetal heart rate or rhythm Fetal growth issues Advanced maternal age Decreased fetal movement Intrauterine growth restriction Oligohydramnios Polyhydramnios Assisted reproduction
|
Additional Information: |
No Data |
Birth History Information |
|
Low birth weight Jaundice Difficulty breathing Abnormal serum screen Failure to thrive Positive newborn screen Caesarian section Neural tube defect Meconium ileus Gastroischisis Premature delivery
|
Additional Information: |
No Data |
Dysmorphic Features |
|
Strabismus Coarse facies Short philtrum Wide mouth Cleft lip Cleft palate Cupped ears Thick fleshy lips Widely-spaced teeth Tented cupid Fetal pads Simian crease Abnormal hands or feet Hypertelorism Hypotelorism Macrocephaly Microcephaly Holoprosencephaly
|
Additional Information: |
No Data |
Neurological Symptoms |
Neuropathy: |
No Data |
|
Lissencephaly Cerebral palsy Corpus callosum abnormalities Ataxia Chorea Dystonia Hypertonia Hypotonia Seizures Structural brain anomaly Hydrocephalus Sleep abnormalities Polymicrogyria Unstable gait Dandy walker White matter issues Basal ganglia damage
|
Additional Information: |
No Data |
Optical and Audiological Symptoms |
|
Defective vision Pupil abnormality Cornea abnormality Nystagmus Optic disk palor Optic nerve damage Blindness Deafness Defective hearing Blepharitis Congenital exotropia Alacrima
|
Additional Information: |
ROD-CONE DYSTROPHY, NIGHT BLINDNESS |
Musculoskeletal Symptoms |
|
Acromelia Rhizomelia Club foot Contractures Scoliosis Kyphosis Skeletal dysplasia Vertebral anomalies Non-ambulatory
|
Additional Information: |
No Data |
Developmental Milestones |
|
Delayed speech and language development Global developmental delay Delayed fine motor skills Delayed gross motor skills Abnormal height for age Abnormal weight for age
|
Holding Head Up Without Assistance: |
No Data |
Sitting Without Assistance: |
No Data |
Walking Without Assistance: |
No Data |
Running: |
No Data |
Additional Information: |
No Data |
Gastrointestinal Symptoms |
|
Hepatosplenomegaly Pyloric stenosis Hirschsprung Bloating Constipation Gastrointestinal reflux Eating difficulties Cholecystectomy Liver abnormalities Pancreatitis Esophageal atresia
|
Additional Information: |
No Data |
Genitourinary Symptoms |
|
Kidney abnormalities Abnormalities of the ureter Abnormalities of the urethra Polycystic kidneys Renal agenesis Urethral obstruction Hydronephrosis Megacystis Urinary tract infection Ovarian cancer Cryptorchidism Ambiguous genitalia
|
Additional Information: |
No Data |
Respiratory and Cardiovascular Symptoms |
|
Hypoplastic left heart Hypoplastic right heart Coarctation of aorta Atrial septal defect AV canal defect Tetralogy of fallot Truncus arteriosus Ebstein anomaly Heart murmur Poor circulation Breathing irregularities Pneumothorax Diaphragmatic hernia Asthma Pulmonary valve atresia
|
Additional Information: |
No Data |
Cognitive and Behavioral Symptoms |
|
Happy personality Anxiety Mood disorder Behavioral problems Autism spectrum disorder Sensory processing disorder Aggression Memory loss Sleep disturbances Learning disability Attention deficit hyperactivity disorder
|
Intellectual Disability: |
No Data |
Additional Information: |
No Data |
Additional Information |
Uncategorized Symptoms: |
No Data |
Testing Performed |
Neurological Testing: |
No Data |
Optical and Audiological Testing: |
UNDERWENT HEIDELBERG SD-OCT INCLUDING BLUE FUNDUS AUTOFLUORESCENCE (BL-FAF); HAD PRESERVED CENTRAL MACULA WITH A HYPERFLUORESCENT RING IN BOTH EYES; IN THE OCT SCAN, THE ELLIPSOID ZONE AREA WAS 6.46 MM^2 IN THE RE AND 7.61 MM^2 IN THE LE; VISUAL FIELD (HUMPHREY SITA STND 24-2) MD IN RE WAS -8.39 AND IN LE WAS -8.35; BCVA: RE 6/6, LE 6/6; ERG NEGATIVE RESPONSE WITH MAXIMUM SCOTOPIC RESPONSES: RE - A WAVE 26.5 MICROVOLT, B-WAVE 13 MICROVOLT, LE - A WAVE 18.2 MICROVOLT, B-WAVE 18 MICROVOLT; PHOTOPIC ERG SHOWED SIMILAR RESPONSE |
Musculoskeletal and Developmental Testing: |
No Data |
Respiratory and Cardiovascular Testing: |
No Data |
Cognitive and Behavioral Testing: |
No Data |
Metabolic, Hematologic, and Endocrinologic Testing: |
No Data |
Uncategorized Testing: |
No Data |
Treatments and Assistive Devices |
|
Occupational therapy Physical therapy Speech therapy Wheelchair or ambulation devices Orthotics Service animal Hearing aid Communication or learning devices music therapy horseback therapy craniosacral therapy glasses
|
Surgeries |
No Data |
Additional Testing: |
No Data |
Medications |
|
No Data |
Family History |
|
No Data |
Remarks |
See "Phenotypic Data" tab. |