Kleefstra Syndrome with Severe Sensory Neural Deafness and De Novo Novel Mutation

被引：2

作者：

Cheema, Huma Arshad ^{[1
]}

Waheed, Nadia ^{[1
]}

Saeed, Anjum ^{[1
]}

机构：

[1] Children Hosp & Inst Child Hlth, Dept Pediat Gastroenterol & Hepatol, Lahore, Pakistan

来源：

JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN | 2022年 / 32卷 / 02期

关键词：

Kleefstra syndrome; KMT2C gene; Neurodevelopmental disorder; Deafness;

D O I：

10.29271/jcpsp.2022.02.236

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Kleefstra syndrome is a rare inherited neuro-developmental condition characterised by facial dysmorphism, microcephaly, hypotonia, developmental delay, and intellectual disability. It is a rare syndrome; and less than 100 cases with different genetic mutations are reported so far. We report an eight-month baby boy with Kleefstra syndrome type 2 due to a novel de novo pathogenic mutation in the KMT2C (Lysine methyltransferase 2C) gene.

引用

页码：236 / 238

页数：3

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