Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report

Pecile, Vanna; Fertz, Mariacristina; Fabretto, Antonella; Brovedani, Pierpaolo; Demarini, Sergio; Opitz, John M.

doi:10.1186/1752-1947-5-222

Cited by 10 publications

(3 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the same way, other findings previously reported in patients with OTCS can also be reinterpreted such as short ribs , rhizomelic shortening of the limbs, postaxial polydacytyly , large multicystic kidneys , multiple peripheral renal cysts , hepatomegaly, pancreas fibrosis, and fetal lobulation of kidneys , hypoplasia of corpus callosum , Dandy–Walker malformation , posterior encephalocele and intellectual disability or developmental delay. Excluding reports of patients with BOS, chromosomal abnormalities, and other C‐like phenotypes, we found 41 cases reported with OTC as its unique and best diagnosis (Table ). Of these, about half of the cases do not include the information required to determine the presence or absence of anomalies of internal organs and skeletal defects indicative of ciliary dysfunction, and thus its frequency remains undetermined.…”

Section: Discussionmentioning

confidence: 99%

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy

et al. 2017

View full text Add to dashboard Cite

〈 We report on an infant with Opitz trigonocephaly C syndrome (OTCS), who also had manifestations of ciliopathy, including short ribs (non-asphyxiating), trident acetabular roofs, postaxial polydactyly cone-shaped epiphyses, and dysplasia of the renal, hepatic and pancreatic tissues. To investigate the molecular cause, we used an exome sequencing strategy followed by Sanger sequencing. Two rare variants, both predicted to result in loss of functional protein, were identified in the IFT140 gene; a substitution at the splice donor site of exon 24 (c.723 + 1 G > T) and a 17 bp deletion, impacting the first coding exon (c.-11_6del). The variants were confirmed as being biallelic using Sanger sequencing, showing that the splice variant was inherited from the propositus mother and the deletion from the father. To date, Mainzer-Saldino syndrome, Jeune syndrome, and a form of nonsyndromic retinal dystrophy, have been identified as ciliopathies caused by IFT140 mutations. We provide the first description of an OTCS phenotype that appears to result from IFT140 mutations. The presentation of this patient is consistent with previous reports showing that OTCS already exhibited skeleletal and nonskeletal features of a ciliopathy.

show abstract

Section: Discussionmentioning

confidence: 99%

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy

et al. 2017

View full text Add to dashboard Cite

show abstract

“…the name with the ''C'' originated from the surname of this family, hence the eponymous name ''Opitz C syndrome''. Fewer than 60 cases have been reported in the worldwide literature [3]. Since almost all the patients have genetic etiology from de novo mutations in sporadic cases, it is suggested that the syndrome may be cytogenetically undetectable in the usual karyotype because the existence of a small microdeletion is only observed with the fluorescence in situ hybridization (FISH technique).…”

Section: Introductionmentioning

confidence: 99%

Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

Fierro

Aviña²

2016

Egyptian Journal of Medical Human Genetics

View full text Add to dashboard Cite

We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anomalies of the face were the following: slight upward palpebral fissures, ocular hypertelorism, depressed nasal bridge, hypoplastic nasal root, short nose with anteverted nares; small low set ears, smooth broad philtrum and thin upper lip. The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities and severe learning difficulties. This clinical presentation is compatible with the diagnosis of the Opitz C syndrome, a heterogeneous disease of multiple neurological and craniofacial abnormalities. The physical sign more detectable and notorious is the trigonocephaly that is manifested by a prominent metopic suture, but also can be distinguished the other minor facial anomalies that are found in the eyes, nose, mouth and ears that constitute the phenotype of the disorder. The neurological development was altered by the compression of the cerebral frontal lobes with narrowing of this cerebral area, producing hypotonia with muscle weakness, epileptic episodes manifested by seizures, and neurobehavioral and neurocognitive disorders. This syndrome is a very rare genetic disorder with autosomal recessive inheritance trait; our patient had no chromosomal abnormality in the usual karyotype but the fluorescence in situ hybridization (FISH technique) showed a balanced translocation between the chromosomes two and eleven: t(2:11) (q32.2/q24).

show abstract

“…Opitz C syndrome (or Opitz-trigonocephaly, OTCS; MIM #211750) is a rare, severe and heterogeneous disorder with some 60 cases described worldwide 1 . Manifestations in this syndrome affect all body systems, are highly variable among different patients, and comprise psychomotor delay, trigonocephaly and a characteristic combination of facial dysmorphisms including retrognathia, upslanted palpebral fissures, and epicanthic folds.…”

mentioning

confidence: 99%

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

Urreizti

Cueto‐González

Franco-Valls

et al. 2017

Sci Rep

View full text Add to dashboard Cite

Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. Different patterns of inheritance and genetic heterogeneity are known in this syndrome. Whole exome and genome sequencing of a 19-year-old girl (P7), initially diagnosed with OTCS, revealed a de novo nonsense mutation, p.Q638*, in the MAGEL2 gene. MAGEL2 is an imprinted, maternally silenced, gene located at 15q11-13, within the Prader-Willi region. Patient P7 carried the mutation in the paternal chromosome. Recently, mutations in MAGEL2 have been described in Schaaf-Yang syndrome (SHFYNG) and in severe arthrogryposis. Patient P7 bears resemblances with SHFYNG cases but has other findings not described in this syndrome and common in OTCS. We sequenced MAGEL2 in nine additional OTCS patients and no mutations were found. This study provides the first clear molecular genetic basis for an OTCS case, indicates that there is overlap between OTCS and SHFYNG syndromes, and confirms that OTCS is genetically heterogeneous. Genes encoding MAGEL2 partners, either in the retrograde transport or in the ubiquitination-deubiquitination complexes, are promising candidates as OTCS disease-causing genes.

show abstract

Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report

Cited by 10 publications

References 7 publications

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy

Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

Contact Info

Product

Resources

About