Table 1 Characteristics of individuals with a duplication of NPHP1 gene in our study and previous studies
Author,year | ID in the study | Diagnosis | Age(years) | Gender | Cognitive profile | Dysmorphic features | Clinical profile |
|---|---|---|---|---|---|---|---|
Yasuda Y. et al. 2014 | Patient 1 | ASD | 24 | Male | FIQ 110 | No dysmorphic features were observed | No evidence of epilepsy was observed. The neurological examination was normal. The function of visceral organs, including the kidneys, was normal |
PIQ 98 | |||||||
VIQ 117 | |||||||
Patient 2 | ASD | 33 | Male | FIQ 80 | No dysmorphic features were observed | No evidence of epilepsy was observed. The neurological examination was normal. The function of visceral organs, including the kidneys, was normal | |
VIQ 86 | |||||||
PIQ 76 | |||||||
Kaminsky EB et al. 2011 [14] | ISCA00000020 | ASD | NA | NA | Intellectual disability was detected | NA | Developmental delay was observed |
ISCA00000128 | ASD | NA | NA | Intellectual disability was detected. | NA | Developmental delay was observed | |
ISCA00000949 | ASD | NA | NA | Intellectual disability was detected | NA | Developmental delay was observed | |
ISCA00001175 | ASD | NA | NA | Intellectual disability was detected | NA | Developmental delay was observed | |
Pinto D et al. 2010 [7] | 5036_4 | Autism | NA | Male | Below-average VIQ and average non-verbal IQ were detected | No dysmorphic features were observed | No evidence of epilepsy was observed |
Baris H et al. 2006 [13] | Â | PDD/ADHD/Obsessive compulsive disorder | 12 | Â | Language-based learning disability was detected | Mid-face hypoplasia, bilateral epicanthal folds, long palpebral fissures, synophrys, upturned nose with a depressed nasal root and retrognathia, and relative macrocephaly were observed | Speech delay and abnormal skin lesions were observed. The neurological examination was normal. Brain MRI was normal. A renal ultrasound scan was normal |