All individuals with variants in gene C2orf69

20 entries on 1 page. Showing entries 1 - 20.
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00375580 Fam1PatII1 PubMed: Wong 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Turkey - 18m - - - ? birth OFC normal, weight 3.75kg, length normal; OFC 39cm (−5 SD), weight 4.9kg (−5.3 SD), length 68cm (−2.7 SD); 18m-died from pneumonia; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); dysgenesis of corpus callosum (HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250); recurrent fever (HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); aseptic osteomyelitis (HP:0002754) (tibia, elbow, hip); elevated c-reactive protein level (HP:0011227); hypochromic microcytic anemia (HP:0004840); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); abdomil distention (HP:0003270); no muscular spasticity (-HP:0001257); hepatomegaly (HP:0002240) 1 2 Johan den Dunnen
00375581 Fam1PatII2 PubMed: Wong 2021 brother M yes Turkey - - - - - ? birth weight 2.3kg, length 45cm; OFC 39cm (−3.1 SD), weight 4.3kg (−4.3 SD), length 58cm (−3.7 SD); alive (in critical condition); developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); dysgenesis of corpus callosum (HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250); recurrent fever (HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); elevated c-reactive protein level (HP:0011227); hypochromic microcytic anemia (HP:0004840); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); abdomil distention (HP:0003270); no muscular spasticity (-HP:0001257); hepatomegaly (HP:0002240) 1 1 Johan den Dunnen
00375582 Fam2PatII1 PubMed: Wong 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Tunisia - 32m - - - ? birth OFC 35cm, weight 3.1kg, length 50cm; OFC 39.5cm (−6 SD), weight 6.5kg (−3 SD), length 85cm; 32m-died from status epilepticus; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); no dysgenesis of corpus callosum (-HP:0006989); no CNS hypomyelition (-HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250) (focal, pharmacoresistant); recurrent fever (HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); no elevated c-reactive protein level (-HP:0011227); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); no abdomil distention (-HP:0003270); muscular spasticity (HP:0001257); no hepatomegaly (-HP:0002240) 1 1 Johan den Dunnen
00375583 Fam3PatII1 PubMed: Wong 2021 2-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - ? deceased; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); seizures (HP:0001250) (intractable) 1 4 Johan den Dunnen
00375584 Fam3PatII2 PubMed: Wong 2021 cousin M yes Saudi Arabia - 18m - - - ? 18m-died; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); seizures (HP:0001250); muscular hypotonia (HP:0001252) 1 1 Johan den Dunnen
00375585 Fam3PatII3 PubMed: Wong 2021 cousin F yes Saudi Arabia - 24m - - - ? birth weight 2.12kg; OFC 36cm (−6 SD), weight 4.6kg, length 53cm; 24m-died; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); seizures (HP:0001250) (focal); muscular hypotonia (HP:0001252) 1 1 Johan den Dunnen
00375586 Fam4PatII1 PubMed: Wong 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Iran - 29m - - - ? birth OFC normal, 3.5kg, length 52cm; ; 29m-died from pneumonia; developmental delay (HP:0001263); failure to thrive (HP:0001508); dysgenesis of corpus callosum (HP:0006989); seizures (HP:0001250) (absent seizures, several episodes); recurrent fever (HP:0001954); inflammatory arthritis (HP:0001369); eptic arthritis (HP:0003095); aseptic osteomyelitis (HP:0002754) (elbows, hip, clavicle); elevated c-reactive protein level (HP:0011227); hypochromic microcytic anemia (HP:0004840); no muscular hypotonia (-HP:0001252); general muscle wasting (HP:0009055); abdomil distention (HP:0003270); muscular spasticity (HP:0001257); no hepatomegaly (-HP:0002240) 1 2 Johan den Dunnen
00375587 Fam4PatII2 PubMed: Wong 2021 brother M yes Iran - 11m - - - ? birth OFC normal, weight 3.7kg, length 50cm; ; 11m-died from pneumonia; developmental delay (HP:0001263); dysgenesis of corpus callosum (HP:0006989); recurrent fever (HP:0001954); inflammatory arthritis (HP:0001369); eptic arthritis (HP:0003095); no muscular hypotonia (-HP:0001252); abdomil distention (HP:0003270); muscular spasticity (HP:0001257); no hepatomegaly (-HP:0002240) 1 1 Johan den Dunnen
00375588 Fam5PatII1 PubMed: Wong 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Egypt - 9m - - - ? birth OFC 33cm (−0.6 SD), weight 3.0kg, length 49cm; OFC 37cm (−3.5 SD), weight 4.7kg (−3.25 SD), length 59cm (−3.4 SD); 9m-died from pneumonia; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); dysgenesis of corpus callosum (HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250) (myoclonic, several times a day); recurrent fever (HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); elevated c-reactive protein level (HP:0011227); hypochromic microcytic anemia (HP:0004840); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); no hepatomegaly (-HP:0002240) 1 1 Johan den Dunnen
00375589 Fam6PatII6 PubMed: Wong 2021 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F - Syria - 9m - - - ? birth OFC normal, weight 3.5kg, length normal; weight 2.5kg (−5 SD); 9m-died from cardiac arrest; developmental delay (HP:0001263); no secondary microcephaly (-HP:0005484); failure to thrive (HP:0001508); dysgenesis of corpus callosum (HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250) (tonic); no recurrent fever (-HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); no elevated c-reactive protein level (-HP:0011227); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); no abdomil distention (-HP:0003270); muscular spasticity (HP:0001257); no hepatomegaly (-HP:0002240) 1 3 Johan den Dunnen
00375590 Fam7PatII7 PubMed: Wong 2021 2-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents F yes Iraq - - - - - ? birth weight 3.5kg; ; alive (in critical condition); developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); dysgenesis of corpus callosum (HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250) (focal and myoclonic); recurrent fever (HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); no elevated c-reactive protein level (-HP:0011227); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); no abdomil distention (-HP:0003270) 1 6 Johan den Dunnen
00375591 Fam8PatII3 PubMed: Wong 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - 12m - - - ? birth OFC 35cm (−0.4 SD), weight 3.1kg, length 49cm; OFC 37cm (−5.5 SD), weight 5.8kg (−3 SD), length 60cm (−3.5 SD); 12m-died from pneumonia; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); no dysgenesis of corpus callosum (-HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250) (intractable, focal); recurrent fever (HP:0001954); inflammatory arthritis (HP:0001369) (knee, once); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); elevated c-reactive protein level (HP:0011227); anemia due to congenital dyserythropoietic anemia; muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); no abdomil distention (-HP:0003270); no muscular spasticity (-HP:0001257); no hepatomegaly (-HP:0002240) 1 1 Johan den Dunnen
00375599 Fam1PatI PubMed: Lausberg 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Syria Kurd 2y10m - - - ? 2y10m-died from thromboembolic multiorgan failure; uncomplicated pregnancy; birth normal measurements, OFC 33cm, weight 2830g, length 52cm; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; cerebellar hypoplasia/Dandy Walker variant, optic hypoplasia, frontotemporal atrophy, thin corpus callosum, hypomyelinisation, basilar impression, progressive atrophy in follow-up after 17 months; febrile seizures, generalized epilepsy; impaired visual fixation/reaction, strabism; mildly elevated transaminases and LDH; pericard effusion, biventricular hypertrophy; dispersed areas of PAS-positive plaques in cardiomyocytes, hepatocytes, macrophages; deposits remained after PAS diastase stain; inflammatory arthritis elbows, hip, thrombocytosis, elevated number of monocytes and leukocytes, elevated CRP; hyperthyreosis, PEG; lactate max 5.0 mmol/l, usually not elevated (1-2 mmol/l) 1 1 Johan den Dunnen
00375600 Fam2PatII PubMed: Lausberg 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Iraq Kurd - - - - ? alive; uncomplicated pregnancy; birth in Iraq; muscular hypotonia; developmental delay; dystrophy; no postnatal short stature; progredient microcephaly; frontal cerebral volume reduction, thin corpus callosum; epilepsy; impaired fixation/reaction; elevated transaminases; no cardiac anomalies; Herpes-encephalitis; inflammatory arthritis hip, elbow; recurring fever episodes with high MRP (Myeloid-related proteins) and clinical inflammation; satisfactory response to steroids, very good clinical response to Anakinra (IL-1 blockade); constantly elevated CRP, thrombocytosis, massively elevated calgranulins (S100 A8/A9: 48.000 ng/ml max; after Anakinra: 7960 ng/ml); elevated lactate 1 1 Johan den Dunnen
00375601 Fam3PatIII PubMed: Lausberg 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Germany - 8y11m - - - ? 8y11m-died from multiorgan failure; polyhydramnion; birth normal measurements, OFC 36cm, weight 3370g, length 52cm; muscular hypotonia; developmental delay; dystrophy; postnatal short stature (3rd percentile); progredient microcephaly; Dandy Walker variant, optic hypoplasia, frontotemporal atrophy, hypomyelination, left frontal porencephalic defect, thin corpus callosum, elevated lactate values and lactate peak in MR spectroscopy; no seizures; strabism; hepatomegaly, elevated transaminases; liver: macrophages and hepatocytes with PAS+ inclusions, glycogen deposits; decreased branching enzyme activity; no cardiac anomalies; recurring bronchitis and pneumonia; inflammatory arthritis left hip; spontaneous femur fracture, flexion contractures in elbows, knees and toes, PEG, splenomegaly; muscle PAS+ material, polyglucosan bodies, mitochondrial alterations 1 2 Johan den Dunnen
00375602 Fam3PatIV PubMed: Lausberg 2021 brother M - Germany - - - - - ? alive; uncomplicated pregnancy; birth normal measurements, OFC 37cm, weight 4250g, length 57cm; muscular hypotonia; developmental delay; no dystrophy; postnatal short stature (3rd-10th percentile); progredient microcephaly; Dandy Walker variant, optic hypoplasia, frontotemporal atrophy, hypomyelination, thin corpus callosum; no seizures; no eye anomalies; elevated transaminases; no cardiac anomalies; no inflammatory arthritis; muscle hypertonia 1 1 Johan den Dunnen
00375603 Fam4PatV PubMed: Lausberg 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Turkey - 4y - - - ? 4y-died from seizures and cardiomyopathy; uncomplicated pregnancy, neonatal onset (tibial aseptic asteomyelitis); birth normal measurements, OFC 33.7cm, weight 2980g, length 51.5cm; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; cerebral atrophy; epilepsy; no eye anomalies; hepatomegaly, elevated transaminases and LDH; liver: inclusions in dilated hepatocytes (PAS and PAS+ after amylase digestion); enzymatic activity of glycogen branching enzyme in the liver not detected; dilated cardiomyopathy, left ventricular dysfunction; episodes of aseptic osteomyelitis: tibia, elbow, hip; skull (fronto-parietal empyema?) elevated CRP 1 2 Johan den Dunnen
00375604 Fam4PatVI PubMed: Lausberg 2021 brother M - Turkey - 4y - - - ? 4y-died from infectious illness; uncomplicated pregnancy; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; thin corpus callosum, cerebral atrophy, left ventricular dilatation; epilepsy; strabism; hepatomegaly; liver: inclusions in dilated hepatocytes (PAS and PAS+ after amylase digestion), cirrhotic involution; first diagnosis: enzymatic activity of glycogen branching enzyme in the liver not detected; no cardiac anomalies; recurrent infectious illness, elevated CRP; severe osteopenia 1 1 Johan den Dunnen
00375605 Fam5PatVII PubMed: Lausberg 2021 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - Pakistan - - - - - ? alive; uncomplicated pregnancy, mother had two infections prescribed antibiotics; birth normal measurements, OFC 34.5cm, weight 3394g, length 53cm; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; Dandy Walker variant, frontotemporal atrophy, delayed myelination, thin corpus callosum; reduced N-acetyl-aspartate, no lactate peak in MR spectroscopy; epilepsy; exotropia, myopia; elevated ALT and markedly elevated GGT; ECG showed normal sinus rhythm, with sinus pause and junctional escape rhythm; ECHO showed normal cardiac anatomy and function with an LVED of 2.8; bilateral hip effusions, recurrent respiratory tract infections and aspiration pneumonia, CP; osteopenia, right hip dislocation , chronic pain, right gluteal abscess, G-tube feedings, delayed gastric emptying; lactate 3.7 mmol/l 1 2 Johan den Dunnen
00375606 Fam5PatVIII PubMed: Lausberg 2021 sister F - Pakistan - - - - - ? alive; maternal anemia, nausea, vomiting, maternal hypothyroidism, slow weight gain in the last trimester; birth normal measurements, OFC 32cm, weight 2600g; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; Dandy Walker variant, frontotemporal atrophy, hypomyelination, thin corpus callosum, vermian hypoplasia, microcephaly, pontine hypoplasia; no seizures, EEG shows susceptibility to seizures; initial concerns with inattentiveness, intermittent exotropia, cortical visual impairment; liver normal; no cardiac anomalies; bilateral hip effusions, episode of right sided pneumonia with pleural effusion; G-tube feedings; lactate 2.0 mmol/l 1 1 Johan den Dunnen
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