|
Study features | Davey 2006 | Ojala 2012 | Al Teneiji 2016 | Ucar 2017 | Al Tuwaijri 2022 | Our patient |
|
No. of patients | 18 hutterite patients | 2 Finish brothers | 1 patient | 1 Turkish patient | 1 Arabic patient | 1 Greek patient |
|
Age at diagnosis | N/A | N/A | 13 years old | 2 months | 3 years old | 5.5 years old |
|
Clinical features at the disease onset | (i) DCMP (11/18) (ii) Growth failure (iii) Ataxia (10/18) (iv) Genital anomalies | (i) DCMP (ii) Growth retardation (iii) Ataxia (iv) Cryptorchidism (1/2) | (i) DCMP (transient) (ii) Ataxia (iii) Hypotonia | (i) DCMP noncompaction (ii) Growth failure (iii) Cryptorchidism (iv) Severe neurodevelopmental delay | (i) DCMP (ii) Developmental delay | (i) Genital anomalies (ii) Growth retardation (iii) Transaminasemia (iv) Anemia |
|
Additional features | (i) Long QT (6/18) (ii) Transaminasemia (8/18) (iii) Hepatic steatosis (5/18) (iv) Anemia (12/18) (v) Mild MR (10/18) (vi) Optic atrophy (4/18) (vii) 3-MGA | (i) Noncompaction CMP (ii) Long QT (iii) Anemia (iv) Hypotonia | (i) 3-MGA (transient) (ii) Developmental delay (iii) Mild transaminasemia | (i) Sensorineural hearing loss (ii) Bilateral basal ganglia lesions (iii) Dysmorphic facial features (iv) Anemia (v) Transaminasemia (vi) 3-MGA | (i) Growth retardation (ii) Hypotonia | (i) DCMP with noncompaction features (ii) Prolonged QT (iii) Liver steatosis (iv) Vit D disorders (v) Hypercalciuria (vi) Osteopenia |
|
Genetic analysis | Homozygous splice site mutation (IVS3-1G > C) | Homozygous polymorphism c.285A ⟶ C (p.Gly95 = ) | Homozygous five base pair splice site deletion in the DNAJC19 (c.280þ1_280þ 5delGTAAG) | Variant c.63delC (p.Tyr21) in homozygous state | Single homozygous frameshift at codon 54 in exon 4 (c.159del) [Phe54Leufs5] | Homozygous insertion of a single base (T) at codon 21 in exon 3 of the DNAJC19 gene, c.62dup (p.Tyr21Ter) |
|