Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?

Leal, Gabriela Ferraz; Silva, Elias O.; Duarte, Andréa R.; Campos, João F

doi:10.1002/ajmg.a.32252

Cited by 19 publications

(21 citation statements)

References 15 publications

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“…The 3MC syndrome is grouping of the Carnevale, Mingarelli, Malpuech and Michels syndromes, which are four rare autosomal recessive disorders30313233 postulated to be part of the same clinical manifestation3435. The main features of the 3MC syndrome are facial dysmorphic traits, including hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows.…”

Section: Discussionmentioning

confidence: 99%

Developmental activities of the complement pathway in migrating neurons

et al. 2017

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In recent years the notion that malfunctioning of the immune system may result in developmental brain diseases has emerged. However, the role of immune molecules in the developing brain has not been well explored. The complement pathway converges to cleave C3. Here we show that key proteins in the lectin arm of this pathway, MASP1, MASP2 and C3, are expressed in the developing cortex and that neuronal migration is impaired in knockout and knockdown mice. Molecular mimics of C3 cleavage products rescue the migration defects that have been seen following knockdown of C3 or Masp2. Pharmacological activation of the downstream receptors rescue Masp2 and C3 knockdown as well as C3 knockout. Therefore, we propose that the complement pathway is functionally important in migrating neurons of the developing cortex.

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Section: Discussionmentioning

confidence: 99%

Developmental activities of the complement pathway in migrating neurons

et al. 2017

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“…The 3MC syndrome is the collective term used to identify four allelic variants of the same disease category, the Carnevale, Mingarelli, Malpuech, and Michels syndromes (14,15). Patients with 3MC display a series of congenital characteristic anomalies, including abnormally increased distance between facial parts, bilateral ptosis with abnormally small and droopy eyelids, cleft lip and/or palate, abnormal growth pattern of skull, fusion of radius and ulna, as well as impairment in hearing and/or learning (16 -19).…”

mentioning

confidence: 99%

The X-ray Crystal Structure of Mannose-binding Lectin-associated Serine Proteinase-3 Reveals the Structural Basis for Enzyme Inactivity Associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) Syndrome

Yongqing¹,

Wilmann²,

Reeve³

et al. 2013

Journal of Biological Chemistry

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Background: Mutants of the serine protease, mannose-binding lectin associated-protease-3 (MASP-3), are associated with Carnevale, Mingarelli, Malpuech and Michels (3MC) syndrome. Results: The lack of activity and the structure of the G666E mutant of MASP-3 reveals a molecular basis for 3MC syndrome. Conclusion: Mutants of MASP-3 associated with 3MC syndrome are inactive. Significance: The catalytic activity of MASP-3 is required for normal developmental processes.

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“…The facial features described by Froster et al, along with renal, ureteral, and cardiac anomalies and especially caudal appendage could well be compatible with Malpuech syndrome and therefore 3MC spectrum. The presence of postnatal growth deficiency, lack of reduced sweating (mentioned in the table), cleft palate, diastasis recti, small umbilical hernia [Leal et al, ] with hypoplasia of abdominal muscles in the living girl is also supportive. The three patients described here have some craniofacial similarities to those listed in the literature as compatible with the 3MC spectrum, however we believe the facial gestalt, orodental (i.e, oral frenula, oligodontia) and ectodermal findings (i.e, slow growing hair, reduced sweating), and camptodactyly are distinctive.…”

Section: Discussionmentioning

confidence: 99%

Three patients resembling Teebi–Shaltout syndrome

Aldemir¹,

Özen²,

Erdem³

et al. 2013

American J of Med Genetics Pt A

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Teebi-Shaltout syndrome (TSS) was first reported by Teebi and Shaltout in 1989. This entity is proposed to be inherited in autosomal recessive manner. The clinical features include characteristic facial features, ectodermal dysplasia, camptodactyly, and caudal appendage. Only one additional paper reporting four additional cases has been published since the first description. Clinical features common to all previously affected individuals diagnosed with TSS are craniofacial, orodental-ectodermal, and skeletal. This report summarizes and discusses the findings of three additional patients from two unrelated families with findings similar to TSS. These findings may be present in a genetically and phenotypically heterogeneous group of disorders similar to TSS. Presence of consanguinity and similarly affected siblings of both genders suggests autosomal recessive inheritance.

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Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?

Cited by 19 publications

References 15 publications

Developmental activities of the complement pathway in migrating neurons

Developmental activities of the complement pathway in migrating neurons

The X-ray Crystal Structure of Mannose-binding Lectin-associated Serine Proteinase-3 Reveals the Structural Basis for Enzyme Inactivity Associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) Syndrome

Three patients resembling Teebi–Shaltout syndrome

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