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

Atik, Tahir; Koparir, Asuman; Bademci, Guney; Foster, Joseph; Altunoglu, Umut; Mutlu, Gül Yesiltepe; Bowdin, Sarah; Elcioglu, Nursel; Tayfun, Gulsen A.; Atik, Sevinc Sahin; Ozen, Mustafa; Ozkinay, Ferda; Alanay, Yasemin; Kayserili, Hulya; Thiel, Steffen; Tekin, Mustafa

doi:10.1186/s13023-015-0345-3

Orphanet Journal of Rare Diseases

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_1^2,4	MC6_2^2,4	MC7_1^4,22	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

NA: not available; ASD: atrial septal defect; PDA: patent ductus arteriosus; SPO: Spina bifida occulta; mutations affecting all protein products of MASP1 are grayed
#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

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ISSN: 1750-1172

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