Child Neuropsychiatry Unit, Azienda USL di Parma, 43121 Parma, Italy.
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Genes (Basel). 2021 Jun 10;12(6):900. doi: 10.3390/genes12060900.
Since 2011, eight males with an X-linked recessive disorder (Ogden syndrome, MIM #300855) associated with the same missense variant p.(Ser37Pro) in the gene have been described. After the advent of whole exome sequencing, many variants have been reported as causative of syndromic or non-syndromic intellectual disability in both males and females. The gene lies in the Xq28 region and encodes the catalytic subunit of the major N-terminal acetyltransferase complex NatA, which acetylates almost half the human proteome. Here, we present a young female carrying a de novo [NM_003491:c.247C > T, p.(Arg83Cys)] variant. The 18-year-old girl has severely delayed motor and language development, autistic traits, postnatal growth failure, facial dysmorphisms, interventricular septal defect, neuroimaging anomalies and epilepsy. Our attempt is to expand and compare genotype-phenotype correlation in females with -related syndrome. A detailed clinical description could have relevant consequences for the clinical management of known and newly identified individuals.
自 2011 年以来，已有 8 名男性患有 X 连锁隐性疾病（Ogden 综合征，MIM #300855），与基因中的相同错义变体 p.（Ser37Pro）相关。全外显子组测序出现后，许多变体已被报道为男性和女性综合征性或非综合征性智力障碍的致病原因。基因位于 Xq28 区域，编码主要 N 端乙酰转移酶复合物 NatA 的催化亚基，该复合物乙酰化了近一半的人类蛋白质组。在这里，我们介绍了一位携带新生的 [NM_003491:c.247C > T, p.(Arg83Cys)] 变体的年轻女性。这位 18 岁的女孩运动和语言发育严重延迟、具有自闭症特征、出生后生长不良、面部畸形、室间隔缺损、神经影像学异常和癫痫。我们试图扩展和比较女性与相关综合征的基因型-表型相关性。详细的临床描述可能对已知和新发现个体的临床管理具有重要意义。
