A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome

作者：Debost Legrand Anne; Eymard Pierre Eleonore; Pebrel Richard Celine; Gouas Laetitia; Goumy Carole; Giollant Michel; Ayed Wiem; Tchirkov Andrei; Francannet Christine; Vago Philippe^*

来源：American Journal of Medical Genetics, Part A, 2013, 161A(1): 162-165.

DOI：10.1002/ajmg.a.35614

• Nablus mask-like facial syndrome
• aCGH
• chromosome 8
• FAM92A1 gene

Microdeletions of 8q21.38q22.1 have been identified in all patients with Nablus mask-like facial syndrome (NMLFS). A recent report of a patient without this specific phenotype presented a 1.6?Mb deletion in this region that partially overlapped with previously reported 8q21.3 microdeletions, thus restricting critical region for this syndrome. We report on another case of an 8q21.3 deletion revealed by array comparative genome hybridization (aCGH) in a 4-year-old child with global developmental delay, autism, microcephaly, but without Nablus phenotype. The size of the interstitial deletion was estimated to span 5.2?Mb. By combining the data from previous reports on 8q21.38q22.1 deletions and our case, we were able to narrow the critical region of Nablus syndrome to 0.5?Mb. The deleted region includes FAM92A1, which seems to be a potential candidate gene in NMLFS.

• 出版日期2013-1