Table 2. Phenotype of patients with MED13L variants reported so far.
| Variant | Exon | Inheritance | Sex | Phenotype | Ref |
|---|---|---|---|---|---|
| 46,XX,t(12,17)(q24.1;q21) | Intron 1 | De novo | F | d-TGA, pVSD, PFO, mild coarction of the aorta, birth length 75 centile, weight/OFC 10 centile, postnatal microcephaly at 2 months, motor development delayed, ID, severe speech delay, ataxia, cMRI normal | 3 |
| g.(116, 671, 374_116, 674, 265)_(116, 691,122_116, 691, 954)del | 17-kb encompassing Exon 2 | De novo | F | Supracardial total anomalous pulmonary venous connection, pulmonary atresia, VSD, oligohydramnion, hypotrophic newborn, dysmorphism: macroglossia, micrognathia, anteriorly positioned anus, broad forehead, bitemporal narrowing, ling eyelashes, upslanting palpebral fissures, large/low set ears, flat nasal root, bulbous nose with short alae nasi, deep philtrum, moderate ID, coordination problems, motor developmental delay, muscular hypotonia and hypertonia of extremities, monotonous movements, shy, otherwise social, cMRI and abdominal ultrasound normal | 4 |
| g.(116, 422, 574_116, 476 ,615)_(11 6,591, 442_116, 632, 333)del | 115- kb encompassing Exons 3–4 (out of frame) | De novo | F | Tetralogy of fallot (TOF), hypotrophic newborn (weight<3 centile), gross global developmental delay, muscular hypotonia, prominent occipital protuberance, broad forehead, upslanting palpebral fissures, flat nasal root, bulbous nasal tip with small nares, deep and short philtrum, large/low set ears, micrognathia, overlapping of 5th toe over 4th toe, bowed legs | 4 |
| t(12;19)(q24;q12)(g:116, 487, 351_116, 487, 361) | Intron 4 | De novo | F | Pierre–Robin sequence at birth, multiple limb contractures and camptodactyly, including metatarsus adductus of the thumb, and bilateral equinovarus foot deformity, electroencephalogram showed epileptiform discharges with absence seizures, moderate ID, developmental milestones significantly delayed, global speech delay in isolated, cMRI showed ventricule enlargement in correlation with global atrophy, dysmorphic features: flat occiput, hypertelorism, flat philtrum, bulbous nose, and broad nasal bridge, strabismus, hirsutism, scoliosis | 20 |
| NM_015335.4:c.480-1G>T | Exon 5 | De novo | F | Facial dysmorphism, dizygotic twin, brother healthy, unilateral clubfoot, bilateral sandal gap, delayed motor development, speech delay, hypertonia of extremities, dysmorphism: short, upslanted fissures, bulbous nasal tip, tongue protrusion, bilateral accessory nipples, abnormal palmar creases with extra phalangeal crease of index fingers, cMRI normal | 19 |
| c.752A>G p.(Glu251Gly) | Exon 6 | Maternally inherited | ? | d-TGA, healthy mother | 3 |
| NC_000012.11:g.(?_116, 419, 988)_(116, 460, 600_?)del | Exons 6–20 | De novo | M | Increased nuchal translucency, neonatal feeding problems, gastroesophageal reflux, recurrent ear infections, motor delay, ID, speech delay, muscular hypotonia, facial dysmorphism: small eyelids, mild retrognathia, short stature, no behavioral problems, PFO | 19 |
| g.116, 446 ,509_116, 446 ,510delCT c.1708_1709delAG p.(Ser570Phefs*27) | Exon 10 | De novo | F | Global developmental delay, could walk at the age of 3 years, could make short, incomplete sentences at the age of 5 years, overweight, strabismus, moderate ID, brain CT scan performed at the age of 2 years showed mildly increased extra-axial CSF spaces. | 23 |
| g.116435026T>C c.2579A>G p.(Asp860Gly) | Exon 16 | De novo | M | Feeding problems, epilepsy, IQ 50, Small dysplastic low set ears, a bulbous nasal tip a large mouth and a simean crease of his right hand | 22 |
| g.116424162C>T c.4247G>A p.(Arg1416His) | Exon 19 | Autosomal recessive | ? | Mild ID | 11 |
| g.116,418,553_116,418,554insC or g.116,418,554_116,418,555insC | Intron 23 | De novo | M | Autism spectrum disorder | 24 |
| c.5615G>A, p.(Arg1872His) | Exon 25 | ? | ? | d-TGA | 3 |
| g.116 ,406, 845_116, 406, 852del c.6118-6125del p.(Gly2040Asnfs*32) | Exons 27–28 | De novo | M | ID, open mouth, muscular hypotonia | 21 |
| c.6068A>G p.(Asp2023Gly) | Exon 28 | ? | ? | d-TGA | 3 |
| g.(116 ,022 ,988_116, 024, 060)_(117,043, 341_117, 044, 193)tri | 1 Mb | De novo | F | pVSD (closed spontaneously), fetal hydrops (GW16-25), hypotrophic preterm, postnatal anthropometric data normal at 6.5 years, dysmorphism: broad nasal bridge, mild pectus excavatum, learning difficulties, muscular hypotonia, motor developmental delay, unsteady gait, normal speech development, good social skills | 4 |
All genomic positions given in this table refer to hg19.