Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly

Disorder
OMIM #:	#236500 (Click to access OMIM database)
Disorder:	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
Also known as:	MARCH MARCH syndrome
Clinical
Phenotype:	facial dysmorphism, hydranencephaly, cerebellar hypoplasia, brainstem hypoplasia, anhydramnios, renal dysplasia, absence of bladder, skeletal dysplasia, sudden death
Seen In:	Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite
Remarks:	Autosomal recessive
Mutations
1 Old Colony Mennonite
Gene:	CEP55
Base Change:	C>A, at nucleotide 1274
Amino Acid Change:	ser 425 --> term
2 Amish
Gene:	CEP55
Base Change:	c.514dupA
Amino Acid Change:	p.Ile172Asnfs*17
Last updated:	2022-11-15

References
Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network, Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE. (2017) A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. J Med Genet Jul;54(7):490-501. PubMed ID: 28264986
Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, Crosby AH, Baple EL. (2019) An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. Eur J Hum Genet Apr;27(4):657-662. PubMed ID: 30622327

References

Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network, Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE. (2017) A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. J Med Genet Jul;54(7):490-501.
PubMed ID: 28264986

Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, Crosby AH, Baple EL. (2019) An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. Eur J Hum Genet Apr;27(4):657-662.
PubMed ID: 30622327

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