scholarly journals Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome

2020 ◽  
Vol 21 (15) ◽  
pp. 5483 ◽  
Author(s):  
Gabriela Gajek ◽  
Anna S. Świerzko ◽  
Maciej Cedzyński
Keyword(s):  
Autosomal Recessive ◽  
Essential Role ◽  
Cleft Lip ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Craniofacial Abnormalities ◽  
Radioulnar Synostosis ◽  
Mannose Binding ◽  
Cleft Lip Palate ◽  
Binding Lectin

The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in the MASP1/3, COLEC1,1 or COLEC10 genes. The number of 3MC patients with known mutations in these three genes reported so far remains very small. To date, 16 mutations in MASP-1/3, 12 mutations in COLEC11 and three in COLEC10 associated with 3MC syndrome have been identified. Their products play an essential role as factors involved in the activation of complement via the lectin or alternative (MASP-3) pathways. Recent data indicate that mannose-binding lectin-associated serine protease-1 (MASP-1), MASP-3, collectin kidney-1 (collectin-11) (CL-K1), and collectin liver-1 (collectin-10) (CL-L1) also participate in the correct migration of neural crest cells (NCC) during embryogenesis. This is supported by relationships between MASP1/3, COLEC10, and COLEC11 gene mutations and the incidence of 3MC syndrome, associated with craniofacial abnormalities such as radioulnar synostosis high-arched eyebrows, cleft lip/palate, hearing loss, and ptosis.

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2

2020 ◽  
Author(s):  
Piranit Nik Kantaputra ◽  
Prapai Dejkhamron ◽  
Worrachet Intachai ◽  
Chumpol Ngamphiw ◽  
Katsushige Kawasaki ◽  
...  
Keyword(s):  
Short Stature ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Upper Limb ◽  
Autosomal Recessive ◽  
Cleft Lip ◽  
Clinical Findings ◽  
Protein Model ◽  
Whole Exome ◽  
Cleft Lip Palate

Summary Background Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, short stature, hypoplasia or aplasia of thumbs, and dislocation of radial head and fusion of humerus and radius leading to elbow restriction. Objective To report for the first time the molecular aetiology of JHS. Patient and methods Clinical and radiographic examination, whole exome sequencing, Sanger sequencing, mutant protein model construction, and in situ hybridization of Esco2 expression in mouse embryos were performed. Results Clinical findings of the patient consisted of repaired cleft lip/palate, microcephaly, ptosis, short stature, delayed bone age, hypoplastic fingers and thumbs, clinodactyly of the fifth fingers, and humeroradial synostosis leading to elbow restriction. Intelligence is normal. Whole exome sequencing of the whole family showed a novel homozygous base substitution c.1654C>T in ESCO2 of the proband. The sister was homozygous for the wildtype variant. Parents were heterozygous for the mutation. The mutation is predicted to cause premature stop codon p.Arg552Ter. Mutations in ESCO2, a gene involved in cohesin complex formation, are known to cause Roberts/SC phocomelia syndrome. Roberts/SC phocomelia syndrome and JHS share similar clinical findings, including autosomal recessive inheritance, short stature, cleft lip/palate, severe upper limb anomalies, and hypoplastic digits. Esco2 expression during the early development of lip, palate, eyelid, digits, upper limb, and lower limb and truncated protein model are consistent with the defect. Conclusions Our study showed that Roberts/SC phocomelia syndrome and JHS are allelic and distinct entities. This is the first report demonstrating that mutation in ESCO2 causes JHS, a cohesinopathy.

Dental Evaluation of Kabuki Syndrome Patients

2009 ◽  
Vol 46 (6) ◽  
pp. 668-673 ◽  
Author(s):  
Camila Santos Teixeira ◽  
Claudia Renata Leite Silva ◽  
Rachel Sayuri Honjo ◽  
Débora Romeo Bertola ◽  
Lílian Maria José Albano ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Primary Teeth ◽  
Genetic Disorder ◽  
Mixed Dentition ◽  
Unknown Etiology ◽  
Kabuki Syndrome ◽  
Missing Teeth ◽  
Mild Phenotype ◽  
Growth Deficiency ◽  
Cleft Lip Palate

Kabuki syndrome is a genetic disorder of unknown etiology characterized by mental retardation, growth deficiency, and peculiar face (i.e., long palpebral fissures, eversion of the lateral third of the lower eyelids, prominent ears, and broad and depressed nasal tip). Oral manifestations commonly observed in Kabuki syndrome may comprise cleft lip/palate, bifid tongue and uvula, malocclusion, and dental abnormalities. We evaluated the dental findings of eight patients with Kabuki syndrome. One presented cleft palate; three presented caries; and seven had missing teeth, with the upper lateral incisors and inferior central incisors being the most commonly absent. All missing teeth were permanent, and there was no alteration of dental chronology or morphology. Because most patients had mixed dentition, the presence or absence of primary teeth was assessed through the parents’ reports. One patient presented an absent upper canine, which had not been reported previously in the literature. Dental findings may be helpful for clinical diagnosis, or they may be an additional finding to substantiate the diagnosis of Kabuki syndrome in children with mild phenotype.

Essential role of mannose-binding lectin-associated serine proteases-1/3 (MASP-1/3) in the development of lupus-like gromerulonephritis in MRL/lpr mice

Immunobiology ◽  
2016 ◽  
Vol 221 (10) ◽  
pp. 1166 ◽  
Author(s):  
Natsumi Sakamoto ◽  
Takeshi Machida ◽  
Minoru Takahashi ◽  
Teizo Fujita ◽  
Hideharu Sekine
Keyword(s):  
Serine Proteases ◽  
Essential Role ◽  
Mannose Binding Lectin ◽  
Mannose Binding ◽  
Binding Lectin

Johanson–Blizzard's Syndrome with a Novel UBR1 Mutation

2020 ◽  
Author(s):  
Damla Demir ◽  
Yasemin Kendir Demirkol ◽  
Nelgin Gerenli ◽  
Ezgi Aktaş Karabay
Keyword(s):  
Autosomal Recessive ◽  
Frameshift Mutation ◽  
Genetic Disorder ◽  
Pancreatic Insufficiency ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Exocrine Pancreatic Insufficiency ◽  
Ubiquitin Protein Ligase ◽  
Scalp Defect ◽  
Facial Dysmorphia

AbstractJohanson–Blizzard syndrome (JBS) is a rare autosomal recessive genetic disorder, characterized by exocrine pancreatic insufficiency, a distinct abnormal facial appearance and varying degrees of growth retardation. Ubiquitin protein ligase E3 component n-recognin 1 (UBR1) gene mutations are responsible for the syndrome. Here, we describe a 2-month-old female infant, who presented with oily diarrhea, facial dysmorphia, scalp defect, hearing defects, and growth impairment. Molecular genetic testing revealed a novel frameshift mutation in UBR1, c.4027_4028 del (p.Leu1343Valfs*7), which was not previously described in JBS in the literature.

Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: Report of a Brazilian family

1992 ◽  
Vol 44 (2) ◽  
pp. 158-162 ◽  
Author(s):  
Antonio Richieri-Costa ◽  
Maria Leine Guion-Almeida ◽  
Newton Freire-Maia ◽  
Marta Pinheiro
Keyword(s):  
Autosomal Recessive ◽  
Cleft Lip ◽  
Ectodermal Dysplasia ◽  
Cleft Lip Palate
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