| 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. |