ArticleJournal of medical genetics2015
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.
Article in Journal of medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 49 citations in OpenAlex.
- Proposed differential diagnosis and classification of non-syndromic and syndromic supernumerary teeth.BMC oral health · 2026Article
- Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.Frontiers in physiology · 2026Article
- Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.bioRxiv : the preprint server for biology · 2025Article
- Genetic interaction ofbioRxiv : the preprint server for biology · 2025Article
- Disruption of SPECC1L translation initiation by intragenic deletion: novel pathogenic mechanism in Teebi-hypertelorism syndrome.NPJ genomic medicine · 2025Article
- Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Review
- Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.Frontiers in endocrinology · 2024Review
- SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics.Biochemical Society transactions · 2023Article
- Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.Pediatric research · 2023Article
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- Case Report: Balanced Reciprocal Translocation t (17; 22) (p11.2; q11.2) and 10q23.31 Microduplication in an Infertile Male Patient Suffering From Teratozoospermia.Frontiers in genetics · 2022Article
- In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events.Human molecular genetics · 2021Article
- Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.Human genetics · 2021Article
- SPECC1L-deficient primary mouse embryonic palatal mesenchyme cells show speed and directionality defects.Scientific reports · 2021Article
- Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.American journal of medical genetics. Part A · 2020Article
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- MOLECULAR GENETICS OF CLEFT LIP AND PALATE: A REVIEW.Annals of Ibadan postgraduate medicine · 2020Article
- A review of genetics of nasal development and morphological variation.Journal of family medicine and primary care · 2020Review
- SPECC1L regulates palate development downstream of IRF6.Human molecular genetics · 2020Article
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Authors and funding
20 authors at 7 institutions in 2 countries.
Funding
Abstract
backgroundOpitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, hypertelorism, laryngealtracheoesophageal anomalies, congenital heart defects, and hypospadias. The X-linked form of the condition has been associated with mutations in the MID1 gene on Xp22. The autosomal dominant form has been linked to chromosome 22q11.2, although the causative gene has yet to be elucidated. METHODS AND
resultsIn this study, we performed whole exome sequencing on DNA samples from a three-generation family with characteristics of Opitz G/BBB syndrome with negative MID1 sequencing. We identified a heterozygous missense mutation c.1189A>C (p.Thr397Pro) in SPECC1L, located at chromosome 22q11.23. Mutation screening of an additional 19 patients with features of autosomal dominant Opitz G/BBB syndrome identified a c.3247G>A (p.Gly1083Ser) mutation segregating with the phenotype in another three-generation family.
conclusionsPreviously, SPECC1L was shown to be required for proper facial morphogenesis with disruptions identified in two patients with oblique facial clefts. Collectively, these data demonstrate that SPECC1L mutations can cause syndromic forms of facial clefting including some cases of autosomal dominant Opitz G/BBB syndrome and support the original linkage to chromosome 22q11.2.
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