A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome

IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY
Gayatri Nerakh, Madhavi Vasikarla
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引用次数: 0

Abstract

Background

Autism spectrum disorder is a major neurodevelopmental disorder. Temtamy syndrome is a rare syndromic intellectual developmental disorder that presents with global developmental delay, autism, seizures, and agenesis/dysgenesis of the corpus callosum.

Methods

We report a case of a male child who presented with global developmental delay, and autism. Additional clinical features in the child were prominent eyes, long palpebral fissures with eversion of lateral third of the lower eyelid, hypoplastic nipples, and persistent fetal fingertip pads. The clinical features were in favor of Kabuki-like syndrome. MRI brain revealed corpus callosal dysgenesis, mild cerebellar para-vermian, and vermian atrophy.

Results

Trio exome sequencing has revealed a novel pathogenic compound heterozygous variant c.145A >T (p.Lys49Ter) and c.224_242del (p.Val85GlufsTer88) in exon 2 of the C12orf57 gene.

Conclusion

This is the first case of Temtamy syndrome reported from India with additional novel phenotypic features not reported previously and broadens the phenotypic spectrum of the disorder. In addition, it expands the spectrum of pathogenic variants in the C12orf57 gene.

Temtamy综合征患儿C12orf57基因的一个新的致病性复合杂合变体,表现为歌舞伎样综合征的重叠表型特征
背景自闭症谱系障碍是一种主要的神经发育障碍。Temtamy综合征是一种罕见的综合征性智力发育障碍,表现为整体发育迟缓、自闭症、癫痫发作和胼胝体发育不全/发育不全。方法我们报告一例男性儿童,其表现为全球发育迟缓和自闭症。该儿童的其他临床特征是突出的眼睛、长的眼睑裂伴下眼睑外侧三分之一外翻、乳头发育不全和持续的胎儿指尖垫。临床特征有利于歌舞伎样综合征。MRI脑部显示胼胝体发育不全,轻度小脑副朱砂,以及朱砂萎缩。结果三外显子组测序揭示了一种新的致病性复合杂合变异体c.145A>;T(p.Lys49Ter)和c.224_242del(p.Val85GlufsTer88)。结论这是印度报道的第一例Temtamy综合征病例,具有以前未报道的额外新表型特征,并拓宽了该疾病的表型谱。此外,它扩大了C12orf57基因中致病性变体的范围。
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来源期刊
Brain & Development
Brain & Development 医学-临床神经学
CiteScore
3.60
自引率
0.00%
发文量
153
审稿时长
50 days
期刊介绍: Brain and Development (ISSN 0387-7604) is the Official Journal of the Japanese Society of Child Neurology, and is aimed to promote clinical child neurology and developmental neuroscience. The journal is devoted to publishing Review Articles, Full Length Original Papers, Case Reports and Letters to the Editor in the field of Child Neurology and related sciences. Proceedings of meetings, and professional announcements will be published at the Editor''s discretion. Letters concerning articles published in Brain and Development and other relevant issues are also welcome.
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