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SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.

Genes - 28 Jan 2022

Migliore Chiara, Vendramin Anna, McKee Shane, Prontera Paolo, Faravelli Francesca, Sachdev Rani, Dias Patricia, Mascaro Martina, Licastro Danilo, Meroni Germana

Abstract excerpt

Opitz G/BBB syndrome (OS) is a rare genetic developmental condition characterized by congenital defects along the midline of the body. The main clinical signs are represented by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias. The X-linked form of the disease is associated with mutations in the MID1 gene located in Xp22 whereas mutations in the SPECC1L gene in 22q11 have been linked to few cases...

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Identifiers

PMID: 35205294
DOI: 10.3390/genes13020252
PMCID: PMC8871657

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Related research

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SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.PMID 35205294Read ↗

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.Semantic proximity Read ↗

MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.Semantic proximity Read ↗

MID1 mutations in patients with X-linked Opitz G/BBB syndrome.Semantic proximity Read ↗

R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.Semantic proximity Read ↗

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.Semantic proximity Read ↗

A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum.Semantic proximity Read ↗

Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.Semantic proximity Read ↗

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.Semantic proximity Read ↗

A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient.Semantic proximity Read ↗

Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome.Semantic proximity Read ↗

Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.Semantic proximity Read ↗

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.Semantic proximity Read ↗

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