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The TXNDC15 gene has been implicated in autosomal recessive Meckel syndrome (Meckel syndrome), a lethal ciliopathy characterized by occipital encephalocele and postaxial polydactyly. A single fetus homozygous for a frameshift variant c.560delA (p.Asn187IlefsTer4) was identified via whole-exome and Sanger sequencing in a Chinese family, with clinical features including occipital encephalocele (HP:0002085) and postaxial polydactyly (HP:0100259) (PMID:38156946).
Segregation analysis confirmed both parents as heterozygous carriers, but no additional affected individuals or functional studies have been reported. The current evidence is limited, warranting cautious interpretation for diagnostic testing and genetic counseling. Key Take-home: truncating TXNDC15 variants may cause Meckel syndrome, supporting inclusion in autosomal recessive pediatric ciliopathy panels.
Gene–Disease AssociationLimitedSingle homozygous proband with familial segregation ([PMID:38156946]). Genetic EvidenceLimitedOne variant identified in a single affected individual; no additional unrelated cases reported. Functional EvidenceNo EvidenceNo functional or experimental studies described. |