CEP85L – Lissencephaly 10

CEP85L is implicated in Lissencephaly 10, an autosomal recessive neuronal migration disorder. In a single male infant presenting bilateral cryptophthalmos, hypertelorism, bifid nasal tip, low-set ears and mild intellectual disability, a heterozygous CEP85L variant was identified, supporting a provisional genetic link to Lissencephaly 10 (PMID:37353237). Although canonical Lissencephaly 10 typically requires biallelic pathogenic variants, this report suggests incomplete detection of a second allele or an alternative mechanism. No segregation data or additional unrelated cases have been described, and the variant spectrum in CEP85L remains undefined.

To date, there are no reported functional assays, expression studies, or animal models for CEP85L, and the mechanism of pathogenicity is uncharacterized. Absence of experimental concordance limits interpretation. Further genetic studies including segregation analysis and functional validation are required to substantiate CEP85L as causative for Lissencephaly 10.

Key take-home: Evidence is limited to a single case; additional reports and mechanistic data are needed before CEP85L can be reliably integrated into clinical testing for Lissencephaly 10.

References

• BMJ Case Reports | 2023 | Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2. PMID:37353237

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