Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
Solitary median maxillary central incisor syndrome (SMMCI) represents the mildest manifestation of the holoprosencephaly spectrum and occurs in approximately 1 in 50 000 live births. In a cohort of six patients, array comparative genomic hybridization identified a heterozygous deletion at 7q36 encompassing SHH in one individual, implicating SHH haploinsufficiency in SMMCI pathogenesis (PMID:26080100).
No additional SHH‐specific variants or familial segregation data have been reported in SMMCI, and to date there are no functional studies directly assessing SHH in this context. Thus, current evidence for a SHH–SMMCI association remains limited and warrants further investigation.
Gene–Disease AssociationLimitedSingle patient with heterozygous deletion at 7q36 including SHH, no segregation ([PMID:26080100]) Genetic EvidenceLimitedOne proband with SHH‐containing deletion, lacking additional cases or segregation data ([PMID:26080100]) Functional EvidenceNo evidenceNo functional studies linking SHH to solitary median maxillary central incisor syndrome |