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| Study features | Davey 2006 | Ojala 2012 | Al Teneiji 2016 | Ucar 2017 | Al Tuwaijri 2022 | Our patient |
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| No. of patients | 18 hutterite patients | 2 Finish brothers | 1 patient | 1 Turkish patient | 1 Arabic patient | 1 Greek patient |
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| Age at diagnosis | N/A | N/A | 13 years old | 2 months | 3 years old | 5.5 years old |
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| 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 |
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| 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 |
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| 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) |
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