COFS syndrome with familial 1;16 translocation

Abstract

We report on an Egyptian girl with phenotypic abnormalities of cerebro‐oculo‐facio‐skeletal syndrome. She had microcephaly, bilateral congenital cataract, nystagmus, long ear pinnae, camptodactyly, prominent heels, coxa valga, kyphosis and flexure contracture of the elbows and knees. CT scan showed bilateral symmetrical intracranial calcifications. In addition, she had an apparently balanced translocation: 46, XX, t(1;16)(q23;q13) in all cells transmitted from a phenotypically normal mother with a similar balanced translocation mosaicism. We suggest that genes for COFS syndrome could be located on chromosome 1q23 or 16q 13. We recommend chromosomal analysis and DNA studies in cases with COFS manifestations.

The spectrum of chromosomal translocations in the Arab world: ethnic-specific chromosomal translocations and their relevance to diseases

“…In the literature and CTs databases, translocations between chromosome 7 and 16 at various breaking points were reported in cancer cases such as fibromyxoid sarcoma and endometrial stromal sarcoma, but no report of autistic disorders was found (t( 7 ; 16 ) n.d). Additionally, the t(1;16)(q23;q13), reported in Egypt in a case of cerebro-oculo-facio-skeletal (COFS) syndrome (Temtamy et al 1996 ), have been associated with different phenotypes in other ethnic groups, such as malignant peripheral nerve sheath tumors (MPNST) in Japan (Velagaleti et al 2004 ). Also, the t(3;4)(q28;p16), reported in Tunisia in a case of RPL (Hajlaoui et al 2018a ), was found to be linked with oropharynx squamous cell carcinoma in other ethnic populations (t( 3 ; 4 )(q28;p16) n.d).…”