Génétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.
Am J Med Genet A. 2013 Jan;161A(1):162-5. doi: 10.1002/ajmg.a.35614. Epub 2012 Dec 13.
Microdeletions of 8q21.3-8q22.1 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 8q21.3-8q22.1 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.
8q21.3-8q22.1 微缺失已在所有患有纳布卢斯面具样面综合征（NMLFS）的患者中被鉴定出来。最近有一份报告称，一名患者没有这种特定表型，其在该区域存在 1.6Mb 的缺失，该缺失与先前报道的 8q21.3 微缺失部分重叠，从而限制了该综合征的关键区域。我们报告了另一个患有纳布卢斯面具样面综合征的病例，该患者通过 array 比较基因组杂交（aCGH）在一名 4 岁患有全面发育迟缓、自闭症、小头畸形的儿童中被发现，但其没有纳布卢斯表型。该染色体间缺失的大小估计跨越 5.2Mb。通过将先前关于 8q21.3-8q22.1 缺失的报告中的数据与我们的病例相结合，我们能够将纳布卢斯综合征的关键区域缩小到 0.5Mb。缺失的区域包括 FAM92A1，它似乎是 NMLFS 的一个潜在候选基因。
