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Table 1 A summary of MASP1 mutations and phenotypic features of affected individuals

From: Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

  Patients described in the present report Previously reported patients
Patient no (P) P2 P3 P4 P1 P5 P6 II-1013 MC6_12,4 MC6_22,4 MC7_14,22 MC7_2 4,22 I-1013 I-1023 MC3_14 MC5_14 MC5_24
Mutation (cDNA) c.1012-2A > G c.891 + 1G > T c.891 + 1G > T c.1451G > A c.1657G > A c.1987G > T c.870G > A c.1997G > A c.1997G > A c.1997G > A c.1997G > A c.2059G > A c.2059G > A c.1489C > T c.1888 T > C c.1888 T > C
Mutation (protein) splice splice splice p.G484E p.D553N p.D663Y p.W290X p.G666E p.G666E p.G666E p.G666E p.G687R p.G687R p.H497Y p.C630R p.C630R
Localization Intron 7 Intron 6 Intron 6 Exon 12 Exon 12 Exon 12 Exon 6 Exon 12 Exon 12 Exon 12 Exon 12 Exon 12 Exon 12 Exon 12 Exon 12 Exon12
Origin Turkey Turkey Turkey Pakistan Turkey Syria Turkey Brazil Brazil Brazil Brazil Turkey Turkey Greece Italy Italy
Consanguinity + + + + + + + - - + + + + + - -
Age 15 years 6.5 years 4 months 4.5 years 22 years 6 months 9 years 20 years 14 years 23 years 17 years 15 years 10 years NA NA NA
Gender F F M M F M F F M M M F F M M M
Short Stature - + - + +#8 + - - - + + - - - + +
Intellectual disability/developmental delay - - NA + - NA + - - - - + + - - -
Craniosynostosis/Skull asymmetry NA - + NA + - NA - - - - NA NA + - -
Arched eyebrows + + + + + + + + + + + + + + + +
Hypertelorism + + + + + + - + + + + + + + + +
Blepharoptosis + + + + + + + + + + + + + + + +
Downslanting palpebral fissures + + + + + + + + + + + + + + + +
Anterior chamber anomalies - +#3 - +#2 - - - + - - - - - - - -
Hearing loss - - + + + NA - + + + + + + - + +
Cleft lip/palate - - + + + + - - - + + + + + + +
Periumbilical depression + + + NA + - + + - + + + + - - -
Omphalocele/Umblical hernia - - - + + - - + + - - - - - - -
Limitation of elbow movements - - - - - - - + - + + + - - - -
Genital anomalies - - +#5 - - +#9 - - + + + - - - + +
Vesicorenal anomalies - +#4 +#6 - - +#10 + - - - + + - + - -
Caudal appendage and/or spina bifida + - + SPO#1 +#7 + + + + + - + + - + +
Cardiac - PDA PDA ASD, PDA - ASD, PDA PDA - - - - - - - - -
Structural anomaly in Cranial/Spinal MRI NA NA - +#1 +#7 NA NA NA NA NA NA NA NA NA NA NA
Other    Vascular lesion in liver Neonatal tooth, left clubfoot Accessory nipple on the left, bilateral fifth finger campto-clinodactyly Solid lesion in liver#11           
  1. NA: not available; ASD: atrial septal defect; PDA: patent ductus arteriosus; SPO: Spina bifida occulta; mutations affecting all protein products of MASP1 are grayed
  2. #1: Absent olfactory bulbs, small pituitary gland, small thin corpus callosum and severe narrowing of the foramen magnum in cranial MRI, and adequate alignment with conus medullaris at L3, and a 9 mm intrathecal cyst in the distal sac in spinal MRI; #2: Left sided Peter’s anomaly; #3: Bilateral leukoma; #4: Cross renal ectopia; #5: Ambiquous genitalia; #6: Horseshoe kidney; #7: Spinal MRI at 2 years of age revealed a spina bifida between L3 and the sacrum, lumbosacral dural sac ectasia, an intradural dermoid tethering of the cord between L2 and S4, with a thickened filum terminale at L2. She underwent an operation for excision of the cystic tumor, tethered cord, and bone repair; #8: Growth hormone treatment was administered for the patient until 17 years of age; #9: Cliteromegaly of 1.5 cm, anterior ectopic anus, prominent coccyx with a sacral pit, and a presacral capillary malformation of 2 × 3 cm were observed; #10: Left renal agenesis; #11: Abdominal ultrasound showed a heterogeneous hypoechoic solid lesion of 38 × 24 mm, containing serpiginous tubular structures, in the anterior segment of the right lobe of the liver