Familial Recurrence Of 3MC Syndrome In Consanguineous Families: A Clinical And Molecular Diagnostic Approach With Review Of The Literature
Olivia K. Gardner, Karla Haynes, Daniela N Schweitzer, Alexis L. Johns, William P. Magee, Mark M. Urata, Pedro A. Sanchez-Lara
Published 2017 · Medicine
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We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology.
This paper references
Malpuech syndrome: three patients and a review.
Wilhelmina S Kerstjens-Frederikse (2005)
MAp44, a Human Protein Associated with Pattern Recognition Molecules of the Complement System and Regulating the Lectin Pathway of Complement Activation1
Søren E. Degn (2009)
Characterization of Recombinant Mannan-Binding Lectin-Associated Serine Protease (MASP)-3 Suggests an Activation Mechanism Different from That of MASP-1 and MASP-212
Stéphanie Zundel (2004)
Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: The need for practice guidelines
Robin L. Bennett (1999)
Malpuech facial clefting syndrome in a Japanese boy with cardiac defects
Yasutsugu Chinen (1995)
MASP-3 and its association with distinct complexes of the mannan-binding lectin complement activation pathway.
Mads R. Dahl (2001)
Genetic studies of craniofacial anomalies: clinical implications and applications.
Thomas Hart (2009)
Three additional cases of the Michels syndrome.
Gabriela Ferraz Leal (2007)
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
Luigi Titomanlio (2005)
Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs.
Franco Carnevale (1989)
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.
Aslı Sırmacı (2010)
The impact of consanguinity on neonatal and infant health.
A H Bittles (2010)
Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.
Kouhei Satoh (1988)
Composition of the Lectin Pathway of Complement in Gallus gallus: Absence of Mannan-Binding Lectin-Associated Serine Protease-1 in Birds1
Nicholas J. Lynch (2005)
Cooperation between MASP-1 and MASP-2 in the generation of C3 convertase through the MBL pathway.
Mette Møller-Kristensen (2006)
Birth defects and parental consanguinity in Norway.
Camilla Stoltenberg (1997)
Facial analysis technology aids diagnoses of genetic disorders: applications narrow down potential genetic syndromes by matching facial phenotypes to distinct set of possible genetic conditions.
Deborah T. Levenson (2014)
Identification and characterization of a novel human collectin CL-K1.
Hiroyuki Keshi (2006)
Diagnostically relevant facial gestalt information from ordinary photos
Quentin R. V. Ferry (2014)
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?
Ali Al Kaissi (2007)
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
Hanan A. Hamamy (2011)
Disease-causing mutations in genes of the complement system.
Søren E. Degn (2011)
New perspectives on mannan-binding
SE Degn (2011)
Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
Caroline Rooryck (2011)
Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?
Gabriela Ferraz Leal (2008)
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies.
Georges Malpuech (1983)
Michels syndrome in a Brazilian girl born to consanguineous parents.
Maria Leine Guion-Almeida (1995)
Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).
Rita Mingarelli (1996)
Collectin 11 (CL-11, CL-K1) Is a MASP-1/3–Associated Plasma Collectin with Microbial-Binding Activity
Soren W. K. Hansen (2010)
The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations.
Joël Zlotogora (2010)
A clefting syndrome with ocular anterior chamber defect and lid anomalies.
Virginia V. Michels (1978)
Craniosynostosis and lid anomalies: report of a girl with Michels syndrome.
Chris Cunniff (1990)
Mannan-binding lectin-associated serine protease 3 cleaves synthetic peptides and insulin-like growth factor-binding protein 5.
Christa L Cortesio (2006)
Insulin-like growth factor-binding protein
Christopher Binkert (1989)
Genetic disorders in children and young adults: a population study.
P. A. Baird (1988)
Consanguinity and reproductive health among Arabs
Ghazi O. Tadmouri (2009)
Reproductive behavior and health in consanguineous marriages
A H Bittles (1991)
Diagnostic exome sequencing in persons with severe intellectual disability
Richard P. Reading (2013)
Apparent Malpuech syndrome: report on three Brazilian patients with additional signs.
Maria Leine Guion-Almeida (1995)
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.
Manuela Priolo (2007)
Two sibs with Malpuech syndrome.
Giangiorgio Crisponi (1999)
A sibship with unusual anomalies of the eye and skeleton (Michels' syndrome).
Monica A De la Paz (1991)
New perspectives on mannan-binding lectin-mediated complement activation.
Søren E. Degn (2007)
This paper is referenced by
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Juliana Magdalon (2020)
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings
Magdalena Danyel (2019)
The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers
Giulia Pascolini (2019)
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
Christoffer Nellåker (2019)
Next generation phenotyping in Emanuel and Pallister‐Killian syndrome using computer‐aided facial dysmorphology analysis of 2D photos
T Liehr (2018)
3 MC syndrome : A case report 3 MC sendromu : Bir olgu sunumu
Seda Çakmaklı ()
COLEC10 is mutated in 3MC patients and regulates early craniofacial development
Mustafa M. Munye (2017)